Product Details

SNP ID

rs7413162

Assay Type

Functionally tested

NCBI dbSNP Submissions

61

Location

Chr.1:115701256 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGAGTTGGGCTATTCATCATCATC[A/G]TCATCACTGTCATCATTATCCTCTT

Phenotype

MIM: 114251 MIM: 610132

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CASQ2 PubMed Links

Gene Details

Gene

CASQ2

Gene Name

calsequestrin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001232.3	1449	Silent Mutation	GAC,GAT	D395D	NP_001223.2

Gene

VANGL1

Gene Name

VANGL planar cell polarity protein 1

There are no transcripts associated with this gene.

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