SLC10A6 S6F - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

SLC10A6 S6F

(SLC10A6 Ser6Phe)


You are viewing an old version of this page that was saved on May 19, 2010 at 6:22pm by Genome Importing Robot.

Added in this revision:

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
 

Other external references
 

    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":

Log in