| 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; |