Human (GRCh37.p13)
Description

spastic ataxia of Charlevoix-Saguenay (sacsin) [Source:HGNC Symbol;Acc:10519]

Gene Synonyms

ARSACS, DKFZp686B15167, DNAJC29, KIAA0730

Location

Chromosome 13: 23,902,965-24,007,841 reverse strand.

GRCh37:CM000675.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000382298.3SACS-201156394579aaENSP00000371735.3
 
Protein coding
CCDS9300Q9NZJ4 NM_014363.5GENCODE basic
ENST00000382292.3SACS-001153244579aaENSP00000371729.3
 
Protein coding
CCDS9300Q9NZJ4 -GENCODE basic
ENST00000402364.1SACS-003151343829aaENSP00000385844.1
 
Protein coding
Q9NZJ4 NM_001278055.1GENCODE basic
ENST00000455470.1SACS-0042784732aaENSP00000406565.1
 
Protein coding
--CDS 5' incomplete
ENST00000423156.1SACS-0051709374aaENSP00000390925.1
 
Protein coding
B2REB0 -CDS 5' incomplete
ENST00000476776.1SACS-002513No protein-
 
Processed transcript
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