Product Details

SNP ID
rs199972730
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31548291 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCGACACCCAGGCCTCGATGTAGA[C/T]GCTGGGCAGCCCCCACCACTGCACC
Phenotype
MIM: 606853 MIM: 142560 MIM: 601022
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ATP6V1G2 PubMed Links

Gene Details

Gene
ATP6V1G2
Gene Name
ATPase H+ transporting V1 subunit G2
There are no transcripts associated with this gene.

Gene
ATP6V1G2-DDX39B
Gene Name
ATP6V1G2-DDX39B readthrough (NMD candidate)
There are no transcripts associated with this gene.

Gene
DDX39B
Gene Name
DEAD-box helicase 39B
There are no transcripts associated with this gene.

Gene
DDX39B-AS1
Gene Name
DDX39B antisense RNA 1
There are no transcripts associated with this gene.

Gene
LOC100287329
Gene Name
uncharacterized LOC100287329
There are no transcripts associated with this gene.

Gene
NFKBIL1
Gene Name
NFKB inhibitor like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144961.1 305 Silent Mutation GAC,GAT D62D NP_001138433.1
NM_001144962.1 305 Silent Mutation GAC,GAT D39D NP_001138434.1
NM_001144963.1 305 Silent Mutation GAC,GAT D39D NP_001138435.1
NM_005007.3 305 Silent Mutation GAC,GAT D62D NP_004998.3
Gene
SNORD84
Gene Name
small nucleolar RNA, C/D box 84
There are no transcripts associated with this gene.

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