Product Details

SNP ID

rs114360402

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109783668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCACTTGCGGGGGTAACCCTGCT[G/T]GTGGCCATCGCAGCGGGGGTTCCCC

Phenotype

MIM: 605427

Polymorphism

G/T, Transversion 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	2467	Missense Mutation	AAG,CAG	K810Q	NP_001170899.1
NM_001177431.1	2467	Missense Mutation	AAG,CAG	K823Q	NP_001170902.1
NM_001177433.1	2467	Missense Mutation	AAG,CAG	K750Q	NP_001170904.1
NM_021625.4	2467	Missense Mutation	AAG,CAG	K857Q	NP_067638.3
NM_147204.2	2467	Missense Mutation	AAG,CAG	K797Q	NP_671737.1
XM_005253918.1	2467	Missense Mutation	AAG,CAG	K857Q	XP_005253975.1
XM_011538630.2	2467	Missense Mutation	AAG,CAG	K908Q	XP_011536932.2
XM_011538631.2	2467	Missense Mutation	AAG,CAG	K861Q	XP_011536933.2
XM_011538632.2	2467	Missense Mutation	AAG,CAG	K848Q	XP_011536934.2
XM_011538633.2	2467	Missense Mutation	AAG,CAG	K801Q	XP_011536935.2
XM_011538634.2	2467	Intron			XP_011536936.2
XM_011538635.2	2467	Intron			XP_011536937.1
XM_011538636.2	2467	Intron			XP_011536938.1
XM_017019774.1	2467	Missense Mutation	AAG,CAG	K857Q	XP_016875263.1

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