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Curation:

Currentness:

(See the latest version)

OCA2 H615R

(OCA2 His615Arg)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

C @ chr15:28197037: 0.1% (7/10758) in EVS
C @ chr15:25870631: 8.6% (11/128) in GET-Evidence
Frequency shown in summary reports: 0.1% (7/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs1800414
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the OCA2 gene
Oculocutaneous Albinism Type 2
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OCA2

PolyPhen-2

Score: 0.998 (probably damaging)

Web search results (23 hits -- see all)

123
at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 ... frequencies for the MC1R and OCA2 genes in a total of 1809 unrelated individuals ...
sayer.lab.nig.ac.jp/.../paper-pdf/Yuasa_Biochem.Genet07.pdf
Type 1 Melanocortin Receptor Summary Report | CureHunter
Type 1 Melanocortin Receptor: A melanocortin receptor subtype found primarily in MELANOCYTES. It shows specificity for ALPHA-MSH and ADRENOCORTICOTROPIC HORMONE. ...
curehunter.com/public/keywordSummaryD044102-Melanocortin-...
Oculocutaneous Albinism - Albinism, Yellow Mutant Summary ...
Oculocutaneous Albinism: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of ...
curehunter.com/public/keywordSummaryD016115-Tyrosinase-Ne...
The neighbor-joining method: a new method for reconstructing ...
Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes. ... at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 ...
lib.bioinfo.pl/pmid:3447015
Search Medical and Societal References - esrnexus
ESRNexus is a publicly searchable online medical and societal ... gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, were investigated in a total of ...
www.esrnexus.com/advsearch.aspx?txtAuthor=Henk
Document Title: Gene Polymorphism and Human Pigmentation
SLC24A5, and OCA2 accounted for 77.3% of the variance in total amount of ... Population studies have shown that specific polymorphisms in the OCA2 and ...
www.ncjrs.gov/pdffiles1/nij/grants/223980.pdf
Type III 97%
... sample, somatic mutation 16959974 OCA2 Q04671 H615R 618 VAR_006139 AGC (0.818) ... autosomal, dbSNP:rs6177) 7565946 10391209 OCA2 Q04671 S86R 89 VAR_006118 CAMK (0. ...
www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_97.txt
Distribution of two Asian-related coding SNPs in the MC1R and ...
Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes. ... at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 ...
www.ncbi.nlm.nih.gov/pubmed/17570052
Henke, L (L)
Henke, L (L) :: Photodestruction of acetylcholinesterase. Recent ... MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, ...
lib.bioinfo.pl/auid:954208
Biochemistry - Findings from Tottori University, Faculty of ...
NewsRx is the leading source of news and information on Biochemistry ... receptor) gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, ...
newsrx.com/library/topics/Oculocutaneous-Albinism/2726.html

Other in silico analyses

NBLOSUM100 score = 1
GET-Evidence autoscore = 5

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Nov 12 2012 Madeleine Ball edited article 17570052 summary view
Nov 12 2012 Madeleine Ball edited variant summary view
Jul 6 2012 Madeleine Ball added article 17570052 view
Dec 9 2011 Barbara Ruef edited article 20221248 summary view
Dec 9 2011 Barbara Ruef edited variant summary view
Dec 9 2011 Barbara Ruef edited article 20221248 summary view
Dec 9 2011 Barbara Ruef edited variant summary view
Dec 9 2011 Barbara Ruef added article 20221248 view
Jun 23 2011 Genome Importing Robot removed [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA18555] view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18558-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added variant view

OCA2 H615R - GET-Evidence