Product Details

SNP ID
rs7518013
Assay Type
Functionally tested
NCBI dbSNP Submissions
51
Location
Chr.1:109401456 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AAATACACGTTTGCTCCAGAAATTA[C/T]AGGGCCGAAATGGATTTACAGTGCT
Phenotype
MIM: 176844 MIM: 602458
Polymorphism
C/T, 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 1401 UTR 3 NP_001186701.1
NM_001199773.1 1401 UTR 3 NP_001186702.1
NM_001199774.1 1401 UTR 3 NP_001186703.1
NM_002790.3 1401 UTR 3 NP_002781.2
Gene
SORT1
Gene Name
sortilin 1
There are no transcripts associated with this gene.

View Full Product Details