Product Details

SNP ID
rs16922613
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:95832884 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGGAATGTGTCATCCATCCACTTAC[A/G]TTGTAACAGAGCTTTATTGCAATTC
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 4629 Intron NP_001230705.1
NM_001243777.1 4629 Intron NP_001230706.1
NM_014679.4 4629 Intron NP_055494.2
XM_006718945.2 4629 Intron XP_006719008.1
XM_006718946.2 4629 Intron XP_006719009.1
XM_017018592.1 4629 Intron XP_016874081.1
XM_017018593.1 4629 Intron XP_016874082.1
XM_017018594.1 4629 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 4629 UTR 3 NP_001230500.1
NM_016156.5 4629 UTR 3 NP_057240.3
NM_201278.2 4629 UTR 3 NP_958435.1
NM_201281.2 4629 UTR 3 NP_958438.1
XM_005274374.2 4629 UTR 3 XP_005274431.1
XM_005274375.2 4629 UTR 3 XP_005274432.1
XM_006718934.2 4629 UTR 3 XP_006718997.1
XM_006718935.2 4629 UTR 3 XP_006718998.1
XM_006718936.3 4629 UTR 3 XP_006718999.1
XM_011543058.2 4629 UTR 3 XP_011541360.1
XM_011543059.2 4629 UTR 3 XP_011541361.1
XM_017018517.1 4629 UTR 3 XP_016874006.1
XM_017018518.1 4629 UTR 3 XP_016874007.1

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