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SNP ID

rs28730712

Assay Type

Functionally tested

NCBI dbSNP Submissions

28

Location

Chr.1:115702930 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGGGGATACTCACATCTGTGAC[A/G]TTCACCACCCCAATCTGTGGCCTGA

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	1269	Silent Mutation	AAC,AAT	N335N	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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