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Human (GRCh37.p13)
Description

sphingomyelin phosphodiesterase 1, acid lysosomal [Source:HGNC Symbol;Acc:11120]

Gene Synonyms

ASM, ASMASE, NPD

Location

Chromosome 11: 6,411,655-6,416,228 forward strand.

GRCh37:CM000673.1

About this gene

This gene has 12 transcripts (splice variants), 2 paralogues and is associated with 5 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
SMPD1-001ENST00000342245.42452631aaENSP00000340409.4
 
Protein coding
CCDS44531E9PL59 P17405 NM_000543
NM_001007593
NP_000534
NP_001007594
GENCODE basic
SMPD1-008ENST00000527275.12188630aaENSP00000435350.1
 
Protein coding
CCDS31409E9PL59 P17405 -GENCODE basic
SMPD1-201ENST00000299397.32326587aaENSP00000299397.3
 
Protein coding
-E9PL59 G3XAB5 -GENCODE basic
SMPD1-202ENST00000356761.22290575aaENSP00000349203.2
 
Protein coding
-E7EWE2 E9PL59 -GENCODE basic
SMPD1-004ENST00000526280.11344317aaENSP00000436278.1
 
Protein coding
-E9PL59 -CDS 5' incomplete
SMPD1-009ENST00000530395.144752aaENSP00000431479.1
 
Protein coding
-E9PL59 -CDS 3' incomplete
SMPD1-007ENST00000534405.12446402aaENSP00000434353.1
 
Nonsense mediated decay
-E9LUE9 E9PL59 E9PQT3
--
SMPD1-002ENST00000533123.12211366aaENSP00000435950.1
 
Nonsense mediated decay
-E9PL59 G3V1E1 Q8IUN0
--
SMPD1-003ENST00000531303.11451171aaENSP00000432625.1
 
Nonsense mediated decay
-E9PPK6 --
SMPD1-010ENST00000533196.1425No protein-
 
Processed transcript
----
SMPD1-006ENST00000531336.1650No protein-
 
Retained intron
----
SMPD1-005ENST00000532367.1409No protein-
 
Retained intron
----

Gene-based displays