SLC5A1 H615Q - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

SLC5A1 H615Q

(SLC5A1 His615Gln)


You are viewing the latest version of this page, saved on November 29, 2012 at 4:34am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr22:32506050: 5.1% (554/10758) in EVS
  • G @ chr22:30836049: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 5.1% (554/10758)

Publications
 

Genomes
 

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr22:32506050

 

Added in this revision:

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr22:32506050

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr22:32506050

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr22:30836050

 

Other external references
 

    dbSNP
  • rs33954001
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (4 hits -- see all)
  • SLC5A1 Gene - GeneCards | SC5A1 Protein | SC5A1 Antibody
    The SLC5A1 gene encodes a protein that is involved in. the active ... SLC5A1 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SLC5A1&snp=232
  • UCSF PMT - Assay View
    PMT,UCSF Pharmacogenetics of Membrane Transporters ... PCR Assay for SLC5A1 PCR. Parameters: Method: The gene regions were PCR amplified from 50 ng genomic DNA and surveyed for ...
    pharmacogenetics.ucsf.edu/cgi-bin/Assay.py?Assay_Key=1275
  • UCSF PMT - Gene View
    PMT,UCSF Pharmacogenetics of Membrane Transporters ... SLC5A1 Resequencing [Your browser is not displaying the SVG image of experimental data in gene context. ...
    pharmacogenetics.ucsf.edu/cgi-bin/Gene.py?hgncSymbol=SLC5A1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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