Product Details

SNP ID
rs1135316
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:95832957 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGACTTGTGGTAGACATGTGAATT[A/G]TTCATTCCAATATAATGTGAATTGC
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243776.1 4556 Intron NP_001230705.1
NM_001243777.1 4556 Intron NP_001230706.1
NM_014679.4 4556 Intron NP_055494.2
XM_006718945.2 4556 Intron XP_006719008.1
XM_006718946.2 4556 Intron XP_006719009.1
XM_017018592.1 4556 Intron XP_016874081.1
XM_017018593.1 4556 Intron XP_016874082.1
XM_017018594.1 4556 Intron XP_016874083.1
Gene
MTMR2
Gene Name
myotubularin related protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243571.1 4556 UTR 3 NP_001230500.1
NM_016156.5 4556 UTR 3 NP_057240.3
NM_201278.2 4556 UTR 3 NP_958435.1
NM_201281.2 4556 UTR 3 NP_958438.1
XM_005274374.2 4556 UTR 3 XP_005274431.1
XM_005274375.2 4556 UTR 3 XP_005274432.1
XM_006718934.2 4556 UTR 3 XP_006718997.1
XM_006718935.2 4556 UTR 3 XP_006718998.1
XM_006718936.3 4556 UTR 3 XP_006718999.1
XM_011543058.2 4556 UTR 3 XP_011541360.1
XM_011543059.2 4556 UTR 3 XP_011541361.1
XM_017018517.1 4556 UTR 3 XP_016874006.1
XM_017018518.1 4556 UTR 3 XP_016874007.1

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