Product Details
- SNP ID
-
rs142238310
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.10:29463530 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GAGCACAGTCTCCATCGCACTCTTC[C/T]GGTCGGAGGCCCAGCGGATGCGGGC
- Phenotype
-
MIM: 604126
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SVIL
PubMed Links
Gene Details
- Gene
- SVIL
- Gene Name
- supervillin
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001323599.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q1770R |
NP_001310528.1 |
NM_001323600.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q1686R |
NP_001310529.1 |
NM_003174.3 |
6992 |
Missense Mutation |
CAG,CGG |
Q1654R |
NP_003165.2 |
NM_021738.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q2080R |
NP_068506.2 |
XM_005252570.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q2122R |
XP_005252627.1 |
XM_005252571.3 |
6992 |
Missense Mutation |
CAG,CGG |
Q2122R |
XP_005252628.1 |
XM_005252573.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q2122R |
XP_005252630.1 |
XM_011519630.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q2181R |
XP_011517932.2 |
XM_011519631.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q2175R |
XP_011517933.2 |
XM_011519632.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q2150R |
XP_011517934.2 |
XM_011519633.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q2133R |
XP_011517935.2 |
XM_011519634.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q2122R |
XP_011517936.1 |
XM_011519635.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q2122R |
XP_011517937.1 |
XM_011519636.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q1897R |
XP_011517938.2 |
XM_011519637.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q1813R |
XP_011517939.2 |
XM_011519638.2 |
6992 |
Missense Mutation |
CAG,CGG |
Q1781R |
XP_011517940.2 |
XM_017016575.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q2207R |
XP_016872064.1 |
XM_017016576.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q2180R |
XP_016872065.1 |
XM_017016577.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q2165R |
XP_016872066.1 |
XM_017016578.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q1865R |
XP_016872067.1 |
XM_017016579.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q1855R |
XP_016872068.1 |
XM_017016580.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q1840R |
XP_016872069.1 |
XM_017016581.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q1771R |
XP_016872070.1 |
XM_017016582.1 |
6992 |
Missense Mutation |
CAG,CGG |
Q1739R |
XP_016872071.1 |
XM_017016583.1 |
6992 |
Intron |
|
|
XP_016872072.1 |
- Gene
- SVIL-AS1
- Gene Name
- SVIL antisense RNA 1
There are no transcripts associated with this gene.
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