SLC10A6 S6F - GET-Evidence

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

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Curation:
Currentness:

SLC10A6 S6F

(SLC10A6 Ser6Phe)


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

  • A @ chr4:87770252: 4.0% (431/10758) in EVS
  • A @ chr4:87989275: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 4.0% (431/10758)

Publications
 

Genomes
 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr4:87770252

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr4:87989276

 

Other external references
 

    dbSNP
  • rs17694522
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • SLC10A6 Gene - GeneCards | SOAT Protein | SOAT Antibody
    SLC10A6 Gene in genomic location: bands according to Ensembl, locations according to (and ... SLC10A6 for ontologies About GeneDecksing. Antibodies for SLC10A6: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SLC10A6
  • Solute carrier family 10 member 6 - Homo sapiens (Human)
    SLC10A6. Synonyms: SOAT. Organism. Homo sapiens (Human) [Complete ... characterization of human sodium-dependent organic anion transporter (SLC10A6) ...
    www.uniprot.org/uniprot/Q3KNW5
  • UniProt: SOAT_HUMAN
    AC Q3KNW5; Q70EX7; DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot. ... characterization of human sodium-dependent RT organic anion transporter (SLC10A6) ...
    www.genome.jp/dbget-bin/www_bget?uniprot+SOAT_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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