Entrez Gene ID | 26240 |
---|---|
Official Gene Symbol | FAM50B (GeneCards) |
Full name | family with sequence similarity 50 member B |
Location | 6p25.2 |
Other ids | Vega : OTTHUMG00000014147 MIM : 614686 HGNC : HGNC:18789 Ensembl : ENSG00000238158 |
Other names | X5L, D6S2654E |
Summary | This gene contains an intronless ORF that arose from ancestral retroposition. The encoded protein is related to a plant protein that plays a role in the circadian clock. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in many tissues. [provided by RefSeq, Nov 2015] |
Found 2 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
9235 | 26240 | FAM50B | 6 | 3971880 | 3971880 | Asymptomatic | HiSeq X Ten |
10071 | 26240 | FAM50B | 6 | 3933336 | 3933336 | Cockayne syndrome | HiSeq X Ten |