Product Details

SNP ID

rs142745217

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:32895327 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCATGTGGTGGCTGCTTTTCCCC[C/G]ACCAGGGCCTCAGCTCCAGCAGCTG

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	769	Intron			NP_002134.2
XM_005270792.2	769	Intron			XP_005270849.1
XM_017001118.1	769	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	769	Missense Mutation	TCG,TGG	S191W	XP_005270465.1

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