Product Details

SNP ID
rs182472403
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:95836006 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATTACCCTGCCCCAGTGTAGTAT[G/T]TTTCTACTATACGATTGTTAACTAT
Phenotype
MIM: 607951 MIM: 603557
Polymorphism
G/T, Transversion 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 Intron NP_001230500.1
NM_016156.5 Intron NP_057240.3
NM_201278.2 Intron NP_958435.1
NM_201281.2 Intron NP_958438.1
XM_005274374.2 Intron XP_005274431.1
XM_005274375.2 Intron XP_005274432.1
XM_006718934.2 Intron XP_006718997.1
XM_006718935.2 Intron XP_006718998.1
XM_006718936.3 Intron XP_006718999.1
XM_011543058.2 Intron XP_011541360.1
XM_011543059.2 Intron XP_011541361.1
XM_017018517.1 Intron XP_016874006.1
XM_017018518.1 Intron XP_016874007.1

View Full Product Details