SCRN2 K103R - 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:

SCRN2 K103R

(SCRN2 Lys103Arg)


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

  • C @ chr17:45917605: 2.8% (306/10758) in EVS
  • C @ chr17:43272603: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 2.8% (306/10758)

Publications
 

Genomes
 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr17:45917605

 

Other external references
 

    dbSNP
  • rs17856536
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (4 hits -- see all)
  • SCRN2 Gene - GeneCards | SCRN2 Protein | SCRN2 Antibody
    SCRN2 Gene in genomic location: bands according to Ensembl, locations according to (and ... Monoclonal and Polyclonal Antibodies from Abnova (SCRN2) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SCRN2
  • A Functional Polymorphism under Positive Evolutionary ...
    Selection in ADRB2 is Associated with Human Intelligence. with Opposite Effects in the ... SCRN2. rs17856536. Derived. G. Unknown. Arg [R] 103. Ancestral. A. Unknown ...
    psy.ed.ac.uk/people/iand/Bochdanovits (2009) Behav Geneti...
  • Secernin-2 - Homo sapiens (Human)
    SCRN2. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... K R: dbSNP rs17856536. Ref.3. VAR_029509. Natural variant. 273. 1. E Q: ...
    www.uniprot.org/uniprot/Q96FV2

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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