Product Details

SNP ID

rs12483924

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:36800861 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGATTGGGTGTTCAGGGCAGAGA[C/G]GTGGAAGACCAGGGGCAGTCAGTGC

Phenotype

MIM: 168890

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PVALB PubMed Links

Gene Details

Gene

PVALB

Gene Name

parvalbumin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001315532.1	412	UTR 3			NP_001302461.1
NM_002854.2	412	UTR 3			NP_002845.1

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