Human (GRCh37.p13)
Description

McKusick-Kaufman syndrome [Source:HGNC Symbol;Acc:7108]

Gene Synonyms

BBS6, HMCS, KMS, MKS

Location

Chromosome 20: 10,381,657-10,414,870 reverse strand.

GRCh37:CM000682.1

About this gene

This gene has 3 transcripts (splice variants) and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000347364.3MKKS-0016714570aaENSP00000246062.4
 
Protein coding
CCDS13111B7Z3W9 Q9NPJ1 NM_170784.2GENCODE basic
ENST00000399054.2MKKS-0022663570aaENSP00000382008.2
 
Protein coding
CCDS13111B7Z3W9 Q9NPJ1 NM_018848.3GENCODE basic
ENST00000609375.1MKKS-00388263aaENSP00000477297.1
 
Protein coding
Q9HB66 -GENCODE basic