Product Details

SNP ID

rs140602150

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109783724 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCAGAGGCACCACCACCTCGTCC[A/G]GGTTCGAGTTCTTGTTCAGTTCCAC

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	2411	Missense Mutation	CCG,CTG	P791L	NP_001170899.1
NM_001177431.1	2411	Missense Mutation	CCG,CTG	P804L	NP_001170902.1
NM_001177433.1	2411	Missense Mutation	CCG,CTG	P731L	NP_001170904.1
NM_021625.4	2411	Missense Mutation	CCG,CTG	P838L	NP_067638.3
NM_147204.2	2411	Missense Mutation	CCG,CTG	P778L	NP_671737.1
XM_005253918.1	2411	Missense Mutation	CCG,CTG	P838L	XP_005253975.1
XM_011538630.2	2411	Missense Mutation	CCG,CTG	P889L	XP_011536932.2
XM_011538631.2	2411	Missense Mutation	CCG,CTG	P842L	XP_011536933.2
XM_011538632.2	2411	Missense Mutation	CCG,CTG	P829L	XP_011536934.2
XM_011538633.2	2411	Missense Mutation	CCG,CTG	P782L	XP_011536935.2
XM_011538634.2	2411	Intron			XP_011536936.2
XM_011538635.2	2411	Intron			XP_011536937.1
XM_011538636.2	2411	Intron			XP_011536938.1
XM_017019774.1	2411	Missense Mutation	CCG,CTG	P838L	XP_016875263.1

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