Product Details

SNP ID

rs28730709

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:115701098 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTGCTGAATGATGCTGCTCCTGA[C/T]GCAAAGGGAGTGGGAAAAGAGATGA

Phenotype

MIM: 114251 MIM: 610132

Polymorphism

C/T, 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	1607	UTR 3			NP_001223.2

Gene

VANGL1

Gene Name

VANGL planar cell polarity protein 1

There are no transcripts associated with this gene.

View Full Product Details