Product Details

SNP ID

rs146734508

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:32895412 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCCGCCACGCAGAGCACTAGGG[C/T]GATGCCCCAGAGGCACAGGCTGGAG

Phenotype

MIM: 142622

Polymorphism

C/T, Transition 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	684	Intron			NP_002134.2
XM_005270792.2	684	Intron			XP_005270849.1
XM_017001118.1	684	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	684	Missense Mutation	ACC,GCC	T163A	XP_005270465.1

View Full Product Details