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Human (GRCh37.p13)
Description

Meckel syndrome, type 1 [Source:HGNC Symbol;Acc:7121]

Gene Synonyms

BBS13, FLJ20345, MES, MKS, POC12

Location

Chromosome 17: 56,282,803-56,296,966 reverse strand.

GRCh37:CM000679.1

About this gene

This gene has 15 transcripts (splice variants) and is associated with 7 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
MKS1-003ENST00000393119.22392559aaENSP00000376827.2
 
Protein coding
CCDS11603F5H5Y8 Q9NXB0 NM_017777
NP_060247
GENCODE basic
MKS1-001ENST00000537529.22083549aaENSP00000442096.2
 
Protein coding
CCDS54148F5H5Y8 Q9NXB0 NM_001165927
NP_001159399
GENCODE basic
MKS1-002ENST00000313863.62091456aaENSP00000316631.6
 
Protein coding
-H0Y2S2 -GENCODE basic
MKS1-202ENST00000546108.11926356aaENSP00000443012.1
 
Protein coding
-F5H5Y8 -GENCODE basic
MKS1-201ENST00000337050.71576521aaENSP00000338407.7
 
Protein coding
-A8MPP8 -GENCODE basic
MKS1-012ENST00000577824.11158228aaENSP00000462460.1
 
Protein coding
---CDS 5' incomplete
MKS1-010ENST00000585134.1824211aaENSP00000463826.1
 
Protein coding
-J3QQP4 -CDS 5' incomplete
MKS1-011ENST00000577315.1495117aaENSP00000462179.1
 
Protein coding
---CDS 5' incomplete
MKS1-004ENST00000393120.21926164aaENSP00000376828.2
 
Nonsense mediated decay
-J9PBQ5 --
MKS1-008ENST00000580127.1843146aaENSP00000462423.1
 
Nonsense mediated decay
-J3KSC6 --
MKS1-007ENST00000581761.1812121aaENSP00000462129.1
 
Nonsense mediated decay
-J3KRR3 --
MKS1-005ENST00000578789.156848aaENSP00000462411.1
 
Nonsense mediated decay
-J3KSB7 --
MKS1-006ENST00000581180.1899No protein-
 
Retained intron
----
MKS1-013ENST00000583577.1697No protein-
 
Retained intron
----
MKS1-009ENST00000579358.1567No protein-
 
Retained intron
----

Gene-based displays