Product Details
- SNP ID
-
rs201072896
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:51017556 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ATTCTCTGGCCTCTGTTCATTCACA[C/T]GAGCAAGGGCACCTGCAGGGAAGAG
- Phenotype
-
MIM: 610317
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
COBL
PubMed Links
Gene Details
- Gene
- COBL
- Gene Name
- cordon-bleu WH2 repeat protein
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001287436.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1271V |
NP_001274365.1 |
NM_001287438.1 |
4002 |
Intron |
|
|
NP_001274367.1 |
NM_015198.3 |
4002 |
Missense Mutation |
ATG,GTG |
M1261V |
NP_056013.2 |
XM_005271750.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1333V |
XP_005271807.1 |
XM_005271751.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1318V |
XP_005271808.1 |
XM_005271756.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1214V |
XP_005271813.1 |
XM_011515234.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1358V |
XP_011513536.1 |
XM_011515235.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1343V |
XP_011513537.1 |
XM_011515236.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1311V |
XP_011513538.1 |
XM_011515237.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1301V |
XP_011513539.1 |
XM_011515238.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1270V |
XP_011513540.1 |
XM_011515239.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1254V |
XP_011513541.1 |
XM_011515240.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1239V |
XP_011513542.1 |
XM_011515241.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1047V |
XP_011513543.1 |
XM_017011898.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1276V |
XP_016867387.1 |
XM_017011899.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1230V |
XP_016867388.1 |
XM_017011900.1 |
4002 |
Missense Mutation |
ATG,GTG |
M1173V |
XP_016867389.1 |
XM_017011901.1 |
4002 |
Intron |
|
|
XP_016867390.1 |
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