Product Details

SNP ID
rs596277
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:95833722 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTAAATGAGGAAAATGGCAGATGC[A/G]TTTGTGAAATACTTGGAGTAGAAAG
Phenotype
MIM: 607951 MIM: 603557
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CEP57 PubMed Links

Gene Details

Gene
CEP57
Gene Name
centrosomal protein 57
There are no transcripts associated with this gene.

Gene
MTMR2
Gene Name
myotubularin related protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243571.1 3791 UTR 3 NP_001230500.1
NM_016156.5 3791 UTR 3 NP_057240.3
NM_201278.2 3791 UTR 3 NP_958435.1
NM_201281.2 3791 UTR 3 NP_958438.1
XM_005274374.2 3791 UTR 3 XP_005274431.1
XM_005274375.2 3791 UTR 3 XP_005274432.1
XM_006718934.2 3791 UTR 3 XP_006718997.1
XM_006718935.2 3791 UTR 3 XP_006718998.1
XM_006718936.3 3791 UTR 3 XP_006718999.1
XM_011543058.2 3791 UTR 3 XP_011541360.1
XM_011543059.2 3791 UTR 3 XP_011541361.1
XM_017018517.1 3791 UTR 3 XP_016874006.1
XM_017018518.1 3791 UTR 3 XP_016874007.1

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