Product Details

SNP ID

rs199652031

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:32894861 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAGCAGGTCACGGCCCTCCACCA[C/G]CTCTGGGTTCTCCCGCATCTGCAGA

Phenotype

MIM: 142622

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HPCA PubMed Links

Gene Details

Gene

HPCA

Gene Name

hippocalcin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002143.2	864	Intron			NP_002134.2
XM_005270792.2	864	Intron			XP_005270849.1
XM_017001118.1	864	Intron			XP_016856607.1

Gene

TMEM54

Gene Name

transmembrane protein 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005270408.3	864	Missense Mutation	CTG,GTG	L223V	XP_005270465.1

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