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Human (GRCh37.p13)
Description

T-box 1 [Source:HGNC Symbol;Acc:11592]

Gene Synonyms

CAFS, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCFS

Location

Chromosome 22: 19,744,226-19,771,116 forward strand.

GRCh37:CM000684.1

About this gene

This gene has 5 transcripts (splice variants), 12 paralogues and is associated with 7 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
TBX1-003ENST00000332710.42082495aaENSP00000331791.4
 
Protein coding
CCDS13767D9ZGG0 O43435 NM_080647
NP_542378
GENCODE basic
TBX1-001ENST00000359500.31538372aaENSP00000352483.3
 
Protein coding
CCDS13765O43435 Q152R5 NM_005992
NP_005983
GENCODE basic
TBX1-002ENST00000329705.71465398aaENSP00000331176.7
 
Protein coding
CCDS13766O43435 NM_080646
NP_542377
GENCODE basic
TBX1-004ENST00000475303.1546No protein-
 
Retained intron
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TBX1-005ENST00000484336.1529No protein-
 
Retained intron
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Gene-based displays