Product Details

SNP ID

rs140397494

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:28662489 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCAAGTGGACCTTTTGAAAGTC[A/C]TGATCTTCTTCGGAAAGGGTATATG

Phenotype

MIM: 613386

Polymorphism

A/C, Transversion 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	264	Missense Mutation	CAT,CCT	H28P	NP_057016.1

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