Product Details

SNP ID
rs200252548
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:43971017 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAAGCTGGAGCTCAGGCTCTCAT[A/C]CATTTTGGCCCTGCCTGCTTAAGCC
Phenotype
MIM: 603717 MIM: 604013 MIM: 603456 MIM: 610411
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ATP6V0B PubMed Links

Gene Details

Gene
ATP6V0B
Gene Name
ATPase H+ transporting V0 subunit b
There are no transcripts associated with this gene.

Gene
B4GALT2
Gene Name
beta-1,4-galactosyltransferase 2
There are no transcripts associated with this gene.

Gene
DPH2
Gene Name
DPH2 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039589.1 455 Silent Mutation ATA,ATC I104I NP_001034678.1
NM_001319165.1 455 Silent Mutation ATA,ATC I28I NP_001306094.1
NM_001319166.1 455 Silent Mutation ATA,ATC I104I NP_001306095.1
NM_001319167.1 455 UTR 5 NP_001306096.1
NM_001319168.1 455 Silent Mutation ATA,ATC I28I NP_001306097.1
NM_001319169.1 455 Intron NP_001306098.1
NM_001319170.1 455 UTR 5 NP_001306099.1
NM_001319171.1 455 UTR 5 NP_001306100.1
NM_001384.4 455 Silent Mutation ATA,ATC I104I NP_001375.2
XM_017000502.1 455 Silent Mutation ATA,ATC I104I XP_016855991.1
XM_017000503.1 455 Silent Mutation ATA,ATC I28I XP_016855992.1
XM_017000504.1 455 UTR 5 XP_016855993.1
XM_017000505.1 455 UTR 5 XP_016855994.1
XM_017000506.1 455 UTR 5 XP_016855995.1
Gene
IPO13
Gene Name
importin 13
There are no transcripts associated with this gene.

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