Product Details

SNP ID
rs1051332
Assay Type
DME
NCBI dbSNP Submissions
NA
Location
Chr.13:51933584 on Build GRCh38
Set Membership
HapMap DME Validated Inventoried
Context Sequence [VIC/FAM]
GCTCTGAGAGCCACTGCCAGGTAAA[C/T]AGATGCTCCCTTCGGGGTGCTGTGG
Phenotype
MIM: 606882
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP7B PubMed Links

Gene Details

Gene
ATP7B
Gene Name
ATPase copper transporting beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000053.3 5106 UTR 3 NP_000044.2
NM_001005918.2 5106 UTR 3 NP_001005918.1
NM_001243182.1 5106 UTR 3 NP_001230111.1
XM_005266423.2 5106 UTR 3 XP_005266480.1
XM_005266424.4 5106 UTR 3 XP_005266481.1
XM_005266427.2 5106 UTR 3 XP_005266484.1
XM_005266428.1 5106 UTR 3 XP_005266485.1
XM_005266430.4 5106 UTR 3 XP_005266487.1
XM_005266431.3 5106 UTR 3 XP_005266488.1
XM_005266432.2 5106 UTR 3 XP_005266489.1
XM_006719837.3 5106 UTR 3 XP_006719900.1
XM_006719838.1 5106 UTR 3 XP_006719901.1
XM_006719839.1 5106 UTR 3 XP_006719902.1
XM_011535117.2 5106 UTR 3 XP_011533419.1
XM_011535118.1 5106 UTR 3 XP_011533420.1
XM_011535119.1 5106 UTR 3 XP_011533421.1
XM_011535122.2 5106 UTR 3 XP_011533424.1
XM_017020627.1 5106 UTR 3 XP_016876116.1
XM_017020628.1 5106 UTR 3 XP_016876117.1

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