Product Details

SNP ID
rs139798579
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:52012462 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTGGTGCCTGTGCAAGTTGTTGA[C/G]GTGAGCAGCCGGTCGTGTGGGCTCA
Phenotype
MIM: 613666 MIM: 606882
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
ALG11 PubMed Links

Gene Details

Gene
ALG11
Gene Name
ALG11, alpha-1,2-mannosyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001004127.2 76 Missense Mutation ACG,AGG T15R NP_001004127.2
Gene
ATP7B
Gene Name
ATPase copper transporting beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000053.3 76 Intron NP_000044.2
NM_001005918.2 76 Intron NP_001005918.1
NM_001243182.1 76 Intron NP_001230111.1
XM_005266423.2 76 Intron XP_005266480.1
XM_005266424.4 76 Intron XP_005266481.1
XM_005266427.2 76 Intron XP_005266484.1
XM_005266428.1 76 Intron XP_005266485.1
XM_005266430.4 76 Intron XP_005266487.1
XM_005266431.3 76 Intron XP_005266488.1
XM_005266432.2 76 Intron XP_005266489.1
XM_006719837.3 76 Intron XP_006719900.1
XM_006719838.1 76 Intron XP_006719901.1
XM_006719839.1 76 Intron XP_006719902.1
XM_011535117.2 76 Intron XP_011533419.1
XM_011535118.1 76 Intron XP_011533420.1
XM_011535119.1 76 Intron XP_011533421.1
XM_011535122.2 76 Intron XP_011533424.1
XM_017020627.1 76 Intron XP_016876116.1
XM_017020628.1 76 Intron XP_016876117.1

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