Product Details

SNP ID
rs144040372
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1816321 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCGGTGGGGGAAGAGCACAGACG[C/T]GTCCACCACGGTGCTGTGGATGACC
Phenotype
MIM: 605866 MIM: 615201 MIM: 609614
Polymorphism
C/T, 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 3611 Missense Mutation ACG,GCG T1161A NP_065746.3
XM_011528144.1 3611 Missense Mutation ACG,GCG T1170A XP_011526446.1
XM_011528146.2 3611 Missense Mutation ACG,GCG T1135A XP_011526448.1
XM_017027028.1 3611 Missense Mutation ACG,GCG T1161A XP_016882517.1
XM_017027029.1 3611 Missense Mutation ACG,GCG T1170A XP_016882518.1
XM_017027030.1 3611 Intron XP_016882519.1

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