Human (GRCh37.p13)
Description

polycystic kidney and hepatic disease 1 (autosomal recessive) [Source:HGNC Symbol;Acc:9016]

Gene Synonyms

ARPKD, FCYT, TIGM1

Location

Chromosome 6: 51,480,098-51,952,423 reverse strand.

GRCh37:CM000668.1

About this gene

This gene has 2 transcripts (splice variants), 3 paralogues and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000371117.3PKHD1-001162824074aaENSP00000360158.3
 
Protein coding
CCDS4935P08F94 NM_138694.3GENCODE basic
ENST00000340994.4PKHD1-002115893396aaENSP00000341097.4
 
Protein coding
CCDS4936P08F94 NM_170724.2GENCODE basic