SH3TC2
From SNPedia
is a | gene |
is | mentioned by |
Full name | SH3 domain and tetratricopeptide repeats 2 |
Other names | CMT4C |
EntrezGene | 79628 |
PheGenI | 79628 |
VariationViewer | 79628 |
ClinVar | SH3TC2 |
GeneCards | SH3TC2 |
dbSNP | 79628 |
Diseases | SH3TC2 |
SADR | 79628 |
HugeNav | 79628 |
wikipedia | SH3TC2 |
SH3TC2 | |
gopubmed | SH3TC2 |
EVS | SH3TC2 |
HEFalMp | SH3TC2 |
MyGene2 | SH3TC2 |
23andMe | SH3TC2 |
UniProt | Q8TF17 |
Ensembl | ENSG00000169247 |
OMIM | 608206 |
# SNPs | 41 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs1064793267 | 0 | 149,031,551 | |
rs1064795016 | 0 | 149,040,659 | |
rs1064797314 | 0 | 149,027,835 | |
rs200728983 | 0 | 149,007,044 | |
rs370115218 | 0 | 149,012,634 | |
rs749850181 | 0 | 149,028,348 | |
rs749963147 | 0 | 149,027,931 | |
rs750529207 | 0 | 149,028,147 | |
rs772823083 | 0 | 149,004,910 | |
rs776221160 | 0 | 149,047,862 | |
rs80338918 | 0 | 149,062,995 | |
rs80338919 | 0 | 149,047,914 | |
rs80338920 | 0 | 149,041,619 | |
rs80338921 | 0 | 149,038,376 | |
rs80338922 | 0 | 149,028,555 | |
rs80338923 | 0 | 149,028,146 | |
rs80338924 | 0 | 149,027,984 | |
rs80338925 | 0 | 149,027,763 | |
rs80338926 | 0 | 149,027,760 | |
rs80338927 | 0 | 149,027,750 | |
rs80338928 | 0 | 149,027,541 | |
rs80338929 | 0 | 149,027,240 | |
rs80338930 | 0 | 149,027,090 | |
rs80338931 | 0 | 149,027,022 | |
rs80338932 | 0 | 149,026,903 | |
rs80338933 | 0 | 149,026,872 | |
rs80338934 | 0 | 149,010,272 | |
rs80338935 | 0 | 149,010,271 | |
rs80338936 | 0 | 149,008,988 | |
rs80338937 | 0 | 149,006,955 | |
rs80359890 | 0 | 149,042,718 | |
rs863224454 | 0 | 149,028,145 | |
rs863224520 | 0 | 149,028,070 | |
rs864309709 | 0 | 149,063,022 | |
rs864622663 | 0 | 149,047,930 | |
rs864622664 | 0 | 149,010,294 | |
rs878855092 | 0 | 149,027,642 | |
rs879253859 | 0 | 149,038,475 | |
rs879254057 | 0 | 149,062,966 | |
rs879254316 | 0 | 149,041,411 | |
rs879254317 | 0 | 149,027,244 |
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)