Product Details

SNP ID
rs143132758
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:94720003 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCTAGCCTTCGCAGAAACGATGG[C/T]GGAGGAAGAAGGTGATTGCCGCGGG
Phenotype
MIM: 613895
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DPY19L4 PubMed Links

Gene Details

Gene
DPY19L4
Gene Name
dpy-19 like 4 (C. elegans)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181787.2 129 Missense Mutation GCG,GTG A2V NP_861452.2
XM_005250894.4 129 Missense Mutation GCG,GTG A2V XP_005250951.2
XM_005250895.3 129 UTR 5 XP_005250952.1
XM_011516983.2 129 Missense Mutation GCG,GTG A2V XP_011515285.1
XM_011516984.2 129 Missense Mutation GCG,GTG A2V XP_011515286.1
XM_017013351.1 129 Missense Mutation GCG,GTG A2V XP_016868840.1
XM_017013352.1 129 Missense Mutation GCG,GTG A2V XP_016868841.1
XM_017013353.1 129 Missense Mutation GCG,GTG A2V XP_016868842.1
XM_017013354.1 129 Intron XP_016868843.1
XM_017013355.1 129 UTR 5 XP_016868844.1
XM_017013356.1 129 UTR 5 XP_016868845.1
XM_017013357.1 129 UTR 5 XP_016868846.1

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