Product Details

SNP ID

rs190500642

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:32889093 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTATGGTGACGCCTCCAAGTTTGC[C/T]GAGCACGTCTTCCGCACCTTTGACA

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	707	Silent Mutation	GCC,GCT	A65A	NP_002134.2
XM_005270792.2	707	Silent Mutation	GCC,GCT	A65A	XP_005270849.1
XM_017001118.1	707	Silent Mutation	GCC,GCT	A65A	XP_016856607.1

Gene

TMEM54

Gene Name

transmembrane protein 54

There are no transcripts associated with this gene.

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