PMS1 gene homepage

General information
Gene symbol PMS1
Gene name PMS1 homolog 1, mismatch repair system component
Chromosome 2
Chromosomal band q32.2
Imprinted Unknown
Genomic reference LRG_221
Transcript reference NM_000534.4, NM_001128143.1, NM_001128144.1
Associated with diseases -
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 121
Unique public DNA variants reported 59
Individuals with public variants 132
Hidden variants 0
Date created May 20, 2020
Date last updated May 20, 2020
Version PMS1:200520

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 9121
Entrez Gene 5378
PubMed articles PMS1
OMIM - Gene 600258


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000159 2 PMS1 postmeiotic segregation increased 1 (S. cerevisiae), transcript variant 1 NM_000534.4 NP_000525.1 121
00000160 2 PMS1 postmeiotic segregation increased 1 (S. cerevisiae), transcript variant 2 NM_001128143.1 NP_001121615.1 121
00000161 2 PMS1 postmeiotic segregation increased 1 (S. cerevisiae), transcript variant 3 NM_001128144.1 NP_001121616.1 121


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