Product Details
- SNP ID
-
rs144477274
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:109783665 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTCCTCCACTTGCGGGGGTAACCCT[A/G]CTGGTGGCCATCGCAGCGGGGGTTC
- Phenotype
-
MIM: 605427
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
TRPV4
PubMed Links
Gene Details
- Gene
- TRPV4
- Gene Name
- transient receptor potential cation channel subfamily V member 4
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001177428.1 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q811* |
NP_001170899.1 |
NM_001177431.1 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q824* |
NP_001170902.1 |
NM_001177433.1 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q751* |
NP_001170904.1 |
NM_021625.4 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q858* |
NP_067638.3 |
NM_147204.2 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q798* |
NP_671737.1 |
XM_005253918.1 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q858* |
XP_005253975.1 |
XM_011538630.2 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q909* |
XP_011536932.2 |
XM_011538631.2 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q862* |
XP_011536933.2 |
XM_011538632.2 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q849* |
XP_011536934.2 |
XM_011538633.2 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q802* |
XP_011536935.2 |
XM_011538634.2 |
2470 |
Intron |
|
|
XP_011536936.2 |
XM_011538635.2 |
2470 |
Intron |
|
|
XP_011536937.1 |
XM_011538636.2 |
2470 |
Intron |
|
|
XP_011536938.1 |
XM_017019774.1 |
2470 |
Nonsense Mutation |
CAG,TAG |
Q858* |
XP_016875263.1 |
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