Basic Information

Symbol
SS18L1
RNA class
mRNA
Alias
SS18L1 Subunit Of BAF Chromatin Remodeling Complex CREST Calcium-Responsive Transactivator KIAA0693 SMARCL2 Synovial Sarcoma Translocation Gene On Chromosome 18-Like 1 SS18L1, NBAF Chromatin Remodeling Complex Subunit SS18-Like Protein 1 SYT Homolog 1 LP2261
Location (GRCh38)
20:62143769-62182514
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_198935.3
Sequence length
4549.0 nt
GC content
0.4676

Transcripts

ID Sequence Length GC content
NM_001301778.2 NCBI
GCAGCCGGAGUAUCCACCUCGAUGACCACGGGCUGAGCCCCGCGCCGCC… 4654 nt 0.4667
NM_198935.3 NCBI
GCAGCCGGAGUAUCCACCUCGAUGACCACGGGCUGAGCCCCGCGCCGCC… 4549 nt 0.4676
Summary

This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

Forensic Context

No relevant information is available at the moment.