Product Details

SNP ID

rs149916560

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:162371932 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGAAGGATGCCTAATTGGATGA[A/G]CGTAAGTTTTTCTTTGCCGCAGGTG

Phenotype

MIM: 607030 MIM: 608169

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GCA PubMed Links

Gene Details

Gene

GCA

Gene Name

grancalcin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005246446.2	3631	Intron			XP_005246503.1
XM_006712398.3	3631	Intron			XP_006712461.1
XM_006712400.3	3631	Intron			XP_006712463.1
XM_006712401.3	3631	Intron			XP_006712464.1
XM_011510926.2	3631	Intron			XP_011509228.1
XM_011510927.2	3631	Intron			XP_011509229.1
XM_011510928.2	3631	Intron			XP_011509230.1
XM_017003764.1	3631	Intron			XP_016859253.1
XM_017003765.1	3631	Intron			XP_016859254.1
XM_017003766.1	3631	Intron			XP_016859255.1
XM_017003767.1	3631	Intron			XP_016859256.1
XM_017003768.1	3631	Intron			XP_016859257.1
XM_017003769.1	3631	Intron			XP_016859258.1

Gene

KCNH7

Gene Name

potassium voltage-gated channel subfamily H member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033272.3	3631	Missense Mutation	GCT,GTT	A1163V	NP_150375.2
NM_173162.2	3631	Intron			NP_775185.1
XM_011512109.2	3631	Missense Mutation	GCT,GTT	A1171V	XP_011510411.1
XM_017005218.1	3631	Missense Mutation	GCT,GTT	A1168V	XP_016860707.1
XM_017005219.1	3631	Missense Mutation	GCT,GTT	A1160V	XP_016860708.1
XM_017005220.1	3631	Missense Mutation	GCT,GTT	A1156V	XP_016860709.1
XM_017005221.1	3631	Intron			XP_016860710.1

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