Description
xeroderma pigmentosum, complementation group C [Source:HGNC Symbol;Acc:12816]
Gene Synonyms
RAD4, XP3, XPCC
Location
Chromosome 3: 14,186,647-14,220,283 reverse strand.
GRCh37:CM000665.1
About this gene
This gene has 8 transcripts (splice variants) and is associated with 63 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000285021.7 | XPC-001 | 3832 | 940aa | ENSP00000285021.7 | Protein coding | CCDS46763 | D2CPI9 D2CPJ1 D2CPJ3 D2CPJ8 D2CPK1 D2CPK2 D2CPK4 Q01831 | NM_004628.4 | GENCODE basic, |
ENST00000449060.2 | XPC-201 | 2712 | 903aa | ENSP00000404002.2 | Protein coding | CCDS46764 | D2CPJ1 D2CPJ3 D2CPK2 D2CPK4 Q01831 | - | GENCODE basic, |
ENST00000511155.1 | XPC-007 | 557 | 168aa | ENSP00000423867.1 | Protein coding | D2CPJ8 E7EUB5 | - | CDS 3' incomplete, | |
ENST00000476581.2 | XPC-002 | 2944 | 140aa | ENSP00000424548.1 | Nonsense mediated decay | D2CPJ8 E9PB96 | - | - | |
ENST00000455144.2 | XPC-005 | 958 | No protein | - | Retained intron | - | - | - | |
ENST00000427795.2 | XPC-006 | 820 | No protein | - | Retained intron | - | - | - | |
ENST00000452172.1 | XPC-004 | 571 | No protein | - | Retained intron | - | - | - | |
ENST00000477324.2 | XPC-008 | 554 | No protein | - | Retained intron | - | - | - |