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Human (GRCh37.p13)
Description

aspartate beta-hydroxylase [Source:HGNC Symbol;Acc:757]

Gene Synonyms

AAH, BAH, CASQ2BP1, HAAH, JCTN, junctin

Location

Chromosome 8: 62,413,116-62,627,155 reverse strand.

GRCh37:CM000670.1

About this gene

This gene has 30 transcripts (splice variants), 2 paralogues and is associated with 2 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ASPH-202ENST00000541428.15153729aaENSP00000437864.1
 
Protein coding
CCDS55234Q12797 NM_001164750
NP_001158222
GENCODE basic
ASPH-002ENST00000379454.44595758aaENSP00000368767.4
 
Protein coding
CCDS34898Q12797 NM_004318
NP_004309
GENCODE basic
ASPH-001ENST00000356457.52904313aaENSP00000348841.5
 
Protein coding
CCDS43742Q12797 NM_001164754
NM_032466
NP_001158226
NP_115855
GENCODE basic
ASPH-008ENST00000518068.12744270aaENSP00000429286.1
 
Protein coding
CCDS55237Q12797 NM_001164755
NP_001158227
GENCODE basic
ASPH-003ENST00000517903.12658298aaENSP00000430245.1
 
Protein coding
CCDS55236B7ZM96 Q12797 NM_001164751
NM_001164752
NM_032468
NP_001158223
NP_001158224
NP_115857
GENCODE basic
ASPH-201ENST00000445642.32273299aaENSP00000394013.3
 
Protein coding
CCDS47866Q12797 -GENCODE basic
ASPH-032ENST00000517847.21947299aaENSP00000429954.2
 
Protein coding
CCDS47866Q12797 -GENCODE basic
ASPH-006ENST00000379449.61603203aaENSP00000368762.5
 
Protein coding
CCDS55238Q12797 NM_001164756
NP_001158228
GENCODE basic
ASPH-005ENST00000389204.41290225aaENSP00000373856.4
 
Protein coding
CCDS34900Q12797 NM_020164
NP_064549
GENCODE basic
ASPH-009ENST00000522835.11258256aaENSP00000429160.1
 
Protein coding
CCDS55235Q12797 NM_001164753
NP_001158225
GENCODE basic
ASPH-004ENST00000522603.1842210aaENSP00000436188.1
 
Protein coding
CCDS34899Q12797 NM_032467
NP_115856
GENCODE basic
ASPH-011ENST00000519234.12874327aaENSP00000427823.1
 
Protein coding
-E5RG56 --
ASPH-023ENST00000522919.11269163aaENSP00000430516.1
 
Protein coding
-E5RJL3 -GENCODE basic
ASPH-015ENST00000517661.1809174aaENSP00000428060.1
 
Protein coding
-G3XAN5 -GENCODE basic
ASPH-018ENST00000517856.1800113aaENSP00000429743.1
 
Protein coding
-E5RHJ2 -GENCODE basic
ASPH-016ENST00000518306.1755198aaENSP00000427877.1
 
Protein coding
-E5RG29 -CDS 3' incomplete
ASPH-024ENST00000522349.1531136aaENSP00000429718.1
 
Protein coding
-E5RHK2 -CDS 3' incomplete
ASPH-027ENST00000523897.1871No protein-
 
Processed transcript
----
ASPH-028ENST00000524173.1587No protein-
 
Processed transcript
----
ASPH-029ENST00000523927.1557No protein-
 
Processed transcript
----
ASPH-013ENST00000517928.1548No protein-
 
Processed transcript
----
ASPH-021ENST00000519678.1536No protein-
 
Processed transcript
----
ASPH-012ENST00000522343.1329No protein-
 
Processed transcript
----
ASPH-025ENST00000521909.1851No protein-
 
Retained intron
----
ASPH-020ENST00000518441.1781No protein-
 
Retained intron
----
ASPH-014ENST00000522325.1665No protein-
 
Retained intron
----
ASPH-017ENST00000522036.1663No protein-
 
Retained intron
----
ASPH-019ENST00000520198.1544No protein-
 
Retained intron
----
ASPH-026ENST00000521499.1484No protein-
 
Retained intron
----
ASPH-022ENST00000519264.1337No protein-
 
Retained intron
----

Gene-based displays