Product Details

SNP ID

rs147827058

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:162373537 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCGGTTGACTGGTTCTCATCAGC[C/T]GGATGATGGGTCTCTGATATTCTGA

Phenotype

MIM: 607030 MIM: 608169

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GCA PubMed Links

Gene Details

Gene

GCA

Gene Name

grancalcin

There are no transcripts associated with this gene.

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	3400	Missense Mutation	CAG,CGG	Q1086R	NP_150375.2
NM_173162.2	3400	Intron			NP_775185.1
XM_011512109.2	3400	Missense Mutation	CAG,CGG	Q1094R	XP_011510411.1
XM_017005218.1	3400	Missense Mutation	CAG,CGG	Q1091R	XP_016860707.1
XM_017005219.1	3400	Missense Mutation	CAG,CGG	Q1083R	XP_016860708.1
XM_017005220.1	3400	Missense Mutation	CAG,CGG	Q1079R	XP_016860709.1
XM_017005221.1	3400	Intron			XP_016860710.1

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