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SH3TC2

From SNPedia

is agene
is mentioned by
Full nameSH3 domain and tetratricopeptide repeats 2
Other namesCMT4C
EntrezGene79628
PheGenI79628
VariationViewer79628
ClinVarSH3TC2
GeneCardsSH3TC2
dbSNP79628
SADR79628
HugeNav79628
wikipediaSH3TC2
googleSH3TC2
gopubmedSH3TC2
EVSSH3TC2
HEFalMpSH3TC2
MyGene2SH3TC2
23andMeSH3TC2
UniProtQ8TF17
EnsemblENSG00000169247
OMIM608206
# SNPs32
 Max MagnitudeChromosome positionSummary
rs2007289830149,007,044
rs3701152180149,012,634
rs7498501810149,028,348
rs7499631470149,027,931
rs7762211600149,047,862
rs803389180149,062,995
rs803389190149,047,914
rs803389200149,041,619
rs803389210149,038,376
rs803389220149,028,555
rs803389230149,028,146
rs803389240149,027,984
rs803389250149,027,763
rs803389260149,027,760
rs803389270149,027,750
rs803389280149,027,541
rs803389290149,027,240
rs803389300149,027,090
rs803389310149,027,022
rs803389320149,026,903
rs803389330149,026,872
rs803389340149,010,272
rs803389350149,010,271
rs803389360149,008,988
rs803389370149,006,955
rs803598900149,042,718
rs863224454149,028,145
rs863224520149,028,070
rs8643097090149,063,022
rs8646226630149,047,930
rs864622664149,010,294
rs8788550920149,027,642

Causative gene for some types of Charcot-Marie-Tooth.

http://cmtproject.blogspot.com/2012/05/new-developments.html

  • rs80338933 Arg954Ter (Known causal mutation)
  • Gly843Glu (Potential Novel causal mutation)