Gene: CHRNB1 ENSG00000170175

Description

cholinergic receptor, nicotinic, beta 1 (muscle) [Source:HGNC Symbol;Acc:1961]

Gene Synonyms

ACHRB, CHRNB, CMS1D, CMS2A, SCCMS

Location

Chromosome 17: 7,348,380-7,361,026 forward strand.

GRCh37:CM000679.1

About this gene

This gene has 8 transcripts (splice variants), 12 paralogues and is associated with 3 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000306071.2	CHRNB1-001	2557	501aa	ENSP00000304290.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11106	B7Z2M6 B7Z5H1 I3L535 P11230	NM_000747.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000576360.1	CHRNB1-006	1837	380aa	ENSP00000459092.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I3L1T7 I3L535	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000536404.2	CHRNB1-002	1623	429aa	ENSP00000439209.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B7Z2M6 B7Z5H1 I3L535	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000575379.1	CHRNB1-008	1095	37aa	ENSP00000461751.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I3L535	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000570557.1	CHRNB1-007	947	316aa	ENSP00000460648.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000572857.1	CHRNB1-004	539	158aa	ENSP00000461402.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I3L4N5	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000573209.1	CHRNB1-003	2394	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000574054.1	CHRNB1-005	583	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: CHRNB1 ENSG00000170175

Summary