Product Details

SNP ID
rs147671569
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:1181276 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCCATAATCCACCGGGCGGCTCA[C/T]GGGCTCCAGGGCTGGCCCCTCCTCT
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PSMF1 PubMed Links

Gene Details

Gene
PSMF1
Gene Name
proteasome inhibitor subunit 1
There are no transcripts associated with this gene.

Gene
TMEM74B
Gene Name
transmembrane protein 74B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304748.1 1196 Missense Mutation ATG,GTG M115V NP_001291677.1
NM_001304749.1 1196 Missense Mutation ATG,GTG M91V NP_001291678.1
NM_018354.2 1196 Missense Mutation ATG,GTG M115V NP_060824.1
XM_011529281.2 1196 Missense Mutation ATG,GTG M172V XP_011527583.1
XM_011529282.2 1196 Missense Mutation ATG,GTG M115V XP_011527584.1
XM_011529283.2 1196 Missense Mutation ATG,GTG M115V XP_011527585.1
XM_011529284.2 1196 Missense Mutation ATG,GTG M115V XP_011527586.1
XM_011529285.2 1196 Missense Mutation ATG,GTG M91V XP_011527587.1
XM_017027923.1 1196 Missense Mutation ATG,GTG M147V XP_016883412.1
XM_017027924.1 1196 Missense Mutation ATG,GTG M115V XP_016883413.1
XM_017027925.1 1196 Missense Mutation ATG,GTG M91V XP_016883414.1

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