Product Details

SNP ID

rs148496686

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:16417804 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCATGGAGTCACAGTTCCAGGGC[A/G]AGGACCGGAAATTCGCCCCTCAGAT

Phenotype

MIM: 606676

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TRPV2 PubMed Links

Gene Details

Gene

TRPV2

Gene Name

transient receptor potential cation channel subfamily V member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016113.4	535	Missense Mutation	AAG,GAG	K46E	NP_057197.2
XM_005256676.1	535	Missense Mutation	AAG,GAG	K46E	XP_005256733.1
XM_005256677.1	535	Missense Mutation	AAG,GAG	K46E	XP_005256734.1
XM_005256678.4	535	Missense Mutation	AAG,GAG	K46E	XP_005256735.1
XM_006721541.3	535	Missense Mutation	AAG,GAG	K46E	XP_006721604.1
XM_006721543.3	535	Missense Mutation	AAG,GAG	K46E	XP_006721606.1
XM_011523922.1	535	Missense Mutation	AAG,GAG	K46E	XP_011522224.1
XM_011523923.1	535	Missense Mutation	AAG,GAG	K46E	XP_011522225.1
XM_011523925.2	535	Intron			XP_011522227.1
XM_017024730.1	535	Missense Mutation	AAG,GAG	K46E	XP_016880219.1
XM_017024731.1	535	Missense Mutation	AAG,GAG	K46E	XP_016880220.1
XM_017024732.1	535	Missense Mutation	AAG,GAG	K46E	XP_016880221.1

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