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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