Product Details

SNP ID

rs146752451

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:32894660 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTTCAGTGCAGTGGGCTGGGTGG[A/T]GGGGGAGAGGGTTGAAAGCCCCACT

Phenotype

MIM: 142622

Polymorphism

A/T, 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	1065	Intron			NP_002134.2
XM_005270792.2	1065	Intron			XP_005270849.1
XM_017001118.1	1065	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	1065	UTR 3			XP_005270465.1

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