The SPECC1L gene homepage

General information
Gene symbol SPECC1L
Gene name sperm antigen with calponin homology and coiled-coil domains 1-like
Chromosome 22
Chromosomal band q11.23
Imprinted Unknown
Genomic reference NC_000022.10
Transcript reference NM_015330.3
Exon/intron information NM_015330.3 exon/intron table
Associated with diseases GBBB2, OBLFC1, TBHS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 29
Unique public DNA variants reported 24
Individuals with public variants 20
Hidden variants 1
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated September 17, 2021
Version SPECC1L:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015330.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 29022
Entrez Gene 23384
PubMed articles SPECC1L
OMIM - Gene 614140
OMIM - Diseases GBBB2 (syndrome, Opitz GBBB, type 2, autosomal dominant (GBBB2))
OBLFC1 (facial clefting, oblique, type 1 (OBLFC1, oculomaxillofacial dysplasia))
GeneCards SPECC1L
GeneTests SPECC1L
Orphanet SPECC1L

Active transcripts




NCBI ID     

NCBI Protein ID     

00020161 22 transcript variant 1 NM_015330.3 NP_056145.3 29

Copyright & disclaimer
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