Product Details

SNP ID

rs34622520

Assay Type

Functionally tested

NCBI dbSNP Submissions

25

Location

Chr.1:32895665 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCCCTGGGTGGCAAAGGTCATGG[C/T]GATGGAGGCCAAGAGGCCGAGGGCA

Phenotype

MIM: 142622

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HPCA PubMed Links

Gene Details

Gene

HPCA

Gene Name

hippocalcin

There are no transcripts associated with this gene.

Gene

TMEM54

Gene Name

transmembrane protein 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005270408.3	546	Missense Mutation	ACC,GCC	T117A	XP_005270465.1

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