Product Details

SNP ID
rs34012959
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1816135 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGCATGCAGGCGCCGGCGTCCTC[A/G]CTGGAGCTGTGCCCATCCACTGCGG
Phenotype
MIM: 605866 MIM: 615201 MIM: 609614
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATP8B3 PubMed Links

Gene Details

Gene
ATP8B3
Gene Name
ATPase phospholipid transporting 8B3
There are no transcripts associated with this gene.

Gene
LOC100288123
Gene Name
uncharacterized LOC100288123
There are no transcripts associated with this gene.

Gene
MIR1909
Gene Name
microRNA 1909
There are no transcripts associated with this gene.

Gene
REXO1
Gene Name
RNA exonuclease 1 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020695.3 3797 Silent Mutation AGC,AGT S1199S NP_065746.3
XM_011528144.1 3797 Nonsense Mutation CGA,TGA R1232* XP_011526446.1
XM_011528146.2 3797 Nonsense Mutation CGA,TGA R1197* XP_011526448.1
XM_017027028.1 3797 Nonsense Mutation CGA,TGA R1223* XP_016882517.1
XM_017027029.1 3797 Silent Mutation AGC,AGT S1208S XP_016882518.1
XM_017027030.1 3797 Intron XP_016882519.1

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