Product Details

SNP ID

rs7989738

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:28661897 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGTATTCCCGAGGATGCTGTCTTCA[A/G]CTTTTTTATTCTGTGTTATACACTC

Phenotype

MIM: 613386

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

POMP PubMed Links

Gene Details

Gene

POMP

Gene Name

proteasome maturation protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015932.5		Intron			NP_057016.1

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