OCA2 H615R - GET-Evidence

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OCA2 H615R

(OCA2 His615Arg)

You are viewing an old version of this page that was saved on December 9, 2011 at 5:16pm by Barbara Ruef.

Edited in this revision:

Short summary


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.)

Inheritance pattern


Summary of published research, and additional commentary


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)


Edwards M, Bigham A, Tan J, Li S, Gozdzik A, Ross K, Jin L, Parra EJ. Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation. PLoS Genet. 2010 Mar 5;6(3):e1000867. PubMed PMID: 20221248; PubMed Central PMCID: PMC2832666.

Show that His615Arg is “associated with lower melanin levels [and] is found at high frequencies in East Asian populations, but is absent or at very low frequencies in other population groups.”


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr15:28197037


GS18526 - var-GS18526-1100-36-ASM
hom C @ chr15:25870632


GS18537 - var-GS18537-1100-36-ASM
het C @ chr15:25870632


GS18555 - var-GS18555-1100-36-ASM
hom C @ chr15:25870632


GS18558 - var-GS18558-1100-36-ASM
hom C @ chr15:25870632


GS18940 - var-GS18940-1100-36-ASM
hom C @ chr15:25870632


GS18956 - var-GS18956-1100-36-ASM
het C @ chr15:25870632


Other external references

  • rs1800414
  • 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 ...
  • 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. ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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. ...
  • 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 ...
  • 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, ...
  • 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, ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

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Gene search

"GENE" or "GENE A123C":

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