Product Details

SNP ID
rs41292780
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:51933371 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTGGTTGGTTGGGAGGATTAGA[C/T]GTAATCTATCAAAAGTGCTGCTAAA
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 5319 UTR 3 NP_000044.2
NM_001005918.2 5319 UTR 3 NP_001005918.1
NM_001243182.1 5319 UTR 3 NP_001230111.1
XM_005266423.2 5319 UTR 3 XP_005266480.1
XM_005266424.4 5319 UTR 3 XP_005266481.1
XM_005266427.2 5319 UTR 3 XP_005266484.1
XM_005266428.1 5319 UTR 3 XP_005266485.1
XM_005266430.4 5319 UTR 3 XP_005266487.1
XM_005266431.3 5319 UTR 3 XP_005266488.1
XM_005266432.2 5319 UTR 3 XP_005266489.1
XM_006719837.3 5319 UTR 3 XP_006719900.1
XM_006719838.1 5319 UTR 3 XP_006719901.1
XM_006719839.1 5319 UTR 3 XP_006719902.1
XM_011535117.2 5319 UTR 3 XP_011533419.1
XM_011535118.1 5319 UTR 3 XP_011533420.1
XM_011535119.1 5319 UTR 3 XP_011533421.1
XM_011535122.2 5319 UTR 3 XP_011533424.1
XM_017020627.1 5319 UTR 3 XP_016876116.1
XM_017020628.1 5319 UTR 3 XP_016876117.1

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