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