Overview

Variant ID 22478
Entrez Gene ID 6746
Gene SSR2 (GeneCards)
Location hg19 1:156002547-156002547
hg38 1:156032756-156032756
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000001.10:g.156002547 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 249250621

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.0966
CADD Raw score (version 1.3) 0.103196 (Deleterious)
FATHMM raw prediction score 0.11616 (Tolerated)
Deleterious probability by DeFine 0.6107 (Deleterious)
Entrez Gene ID 6746 (NCBI Gene)
Official Gene Symbol SSR2 (GeneCards)
Number of variants in SSR2 in this database 2 (view all the variants)
Full name signal sequence receptor subunit 2
Band 1q22
Other IDs Vega: OTTHUMG00000017456
OMIM: 600867
HGNC: HGNC:11324
Ensembl: ENSG00000163479
Other names TLAP, HSD25, TRAPB, TRAP-BETA
Summary The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217587.01 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217587

Pubmed ID 29217587
Title Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Journal Science
Publication date 2018.02
Disease Asymptomatic
Number of cases cases of unknown sex: 3;