Product Details

SNP ID
rs150379179
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:32895413 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCCGCCACGCAGAGCACTAGGGC[A/G]ATGCCCCAGAGGCACAGGCTGGAGC
Phenotype
MIM: 142622
Polymorphism
A/G, 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_002143.2 683 Intron NP_002134.2
XM_005270792.2 683 Intron XP_005270849.1
XM_017001118.1 683 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_005270408.3 683 Silent Mutation ATC,ATT I162I XP_005270465.1

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