Product Details

SNP ID
rs200041400
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:52012444 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGCGGCCGGCGAAAGGAGCTGGT[G/T]CCTGTGCAAGTTGTTGAGGTGAGCA
Phenotype
MIM: 613666 MIM: 606882
Polymorphism
G/T, 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 58 Missense Mutation TGC,TTC C9F 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 58 Intron NP_000044.2
NM_001005918.2 58 Intron NP_001005918.1
NM_001243182.1 58 Intron NP_001230111.1
XM_005266423.2 58 Intron XP_005266480.1
XM_005266424.4 58 Intron XP_005266481.1
XM_005266427.2 58 Intron XP_005266484.1
XM_005266428.1 58 Intron XP_005266485.1
XM_005266430.4 58 Intron XP_005266487.1
XM_005266431.3 58 Intron XP_005266488.1
XM_005266432.2 58 Intron XP_005266489.1
XM_006719837.3 58 Intron XP_006719900.1
XM_006719838.1 58 Intron XP_006719901.1
XM_006719839.1 58 Intron XP_006719902.1
XM_011535117.2 58 Intron XP_011533419.1
XM_011535118.1 58 Intron XP_011533420.1
XM_011535119.1 58 Intron XP_011533421.1
XM_011535122.2 58 Intron XP_011533424.1
XM_017020627.1 58 Intron XP_016876116.1
XM_017020628.1 58 Intron XP_016876117.1

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