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.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000347364.3 | MKKS-001 | 6714 | 570aa | ENSP00000246062.4 | Protein coding | CCDS13111 | B7Z3W9 Q9NPJ1 | NM_170784.2 | GENCODE basic, |
ENST00000399054.2 | MKKS-002 | 2663 | 570aa | ENSP00000382008.2 | Protein coding | CCDS13111 | B7Z3W9 Q9NPJ1 | NM_018848.3 | GENCODE basic, |
ENST00000609375.1 | MKKS-003 | 882 | 63aa | ENSP00000477297.1 | Protein coding | Q9HB66 | - | GENCODE basic, |