Product Details

SNP ID
rs200170294
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:105111226 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACGCTCTGGATGACTCAATTGGA[A/G]ATGTTTGGGATTTCAATCTTGATCC
Phenotype
MIM: 615748
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KIAA1033 PubMed Links

Gene Details

Gene
KIAA1033
Gene Name
KIAA1033
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001293640.1 250 Missense Mutation AAT,GAT N55D NP_001280569.1
NM_015275.2 250 Missense Mutation AAT,GAT N55D NP_056090.1
XM_011538073.2 250 Missense Mutation AAT,GAT N55D XP_011536375.1
XM_011538074.2 250 UTR 5 XP_011536376.1
XM_011538077.2 250 Missense Mutation AAT,GAT N55D XP_011536379.1
XM_017019082.1 250 Missense Mutation AAT,GAT N55D XP_016874571.1
Gene
LOC414300
Gene Name
uncharacterized LOC414300
There are no transcripts associated with this gene.

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