Product Details

SNP ID

rs72983020

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:109402096 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCTGCACTGTGGCTAGCTGGA[A/G]AGAAAACAGAAGGGTTAATAAGCTG

Phenotype

MIM: 176844 MIM: 602458

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PSMA5 PubMed Links

Gene Details

Gene

PSMA5

Gene Name

proteasome subunit alpha 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199772.1		Intron			NP_001186701.1
NM_001199773.1		Intron			NP_001186702.1
NM_001199774.1		Intron			NP_001186703.1
NM_002790.3		Intron			NP_002781.2

Gene

SORT1

Gene Name

sortilin 1

There are no transcripts associated with this gene.

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