Gene: ABCA4 ENSG00000198691

Description

ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]

Gene Synonyms

ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1

Location

Chromosome 1: 94,458,393-94,586,688 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 9 transcripts (splice variants), 11 paralogues and is associated with 9 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000370225.3	ABCA4-001	7309	2273aa	ENSP00000359245.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS747	F5H5R2 P78363 Q0QD48 Q86V62	NM_000350.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000535735.1	ABCA4-201	3105	979aa	ENSP00000437682.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H6E5 Q0QD48 Q86V62	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000536513.1	ABCA4-203	1780	543aa	ENSP00000439707.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DWY6 F5H5R2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000535881.1	ABCA4-202	1459	392aa	ENSP00000443203.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H5R2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000465352.1	ABCA4-002	1048	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000460514.1	ABCA4-004	690	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000470771.1	ABCA4-005	488	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000472033.1	ABCA4-003	470	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000484388.1	ABCA4-006	327	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: ABCA4 ENSG00000198691

Summary