Product Details

SNP ID
rs149267166
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109783653 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGCGTCATCAGTCCTCCACTTGC[A/G]GGGGTAACCCTGCTGGTGGCCATCG
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 2482 Missense Mutation CGC,TGC R815C NP_001170899.1
NM_001177431.1 2482 Missense Mutation CGC,TGC R828C NP_001170902.1
NM_001177433.1 2482 Missense Mutation CGC,TGC R755C NP_001170904.1
NM_021625.4 2482 Missense Mutation CGC,TGC R862C NP_067638.3
NM_147204.2 2482 Missense Mutation CGC,TGC R802C NP_671737.1
XM_005253918.1 2482 Missense Mutation CGC,TGC R862C XP_005253975.1
XM_011538630.2 2482 Missense Mutation CGC,TGC R913C XP_011536932.2
XM_011538631.2 2482 Missense Mutation CGC,TGC R866C XP_011536933.2
XM_011538632.2 2482 Missense Mutation CGC,TGC R853C XP_011536934.2
XM_011538633.2 2482 Missense Mutation CGC,TGC R806C XP_011536935.2
XM_011538634.2 2482 Intron XP_011536936.2
XM_011538635.2 2482 Intron XP_011536937.1
XM_011538636.2 2482 Intron XP_011536938.1
XM_017019774.1 2482 Missense Mutation CGC,TGC R862C XP_016875263.1

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