Product Details

SNP ID
rs200331769
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:123452771 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAGGAGGCCTCTGGGATTCTATA[A/G]TCTTAGGTGTTGTGTCTGAGTGATA
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
IQUB PubMed Links

Gene Details

Gene
IQUB
Gene Name
IQ motif and ubiquitin domain containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282855.1 2937 Missense Mutation ACT,ATT T783I NP_001269784.1
NM_001321293.1 2937 Missense Mutation ACT,ATT T783I NP_001308222.1
NM_178827.4 2937 Missense Mutation ACT,ATT T783I NP_849149.3
XM_005250161.3 2937 Missense Mutation ACT,ATT T783I XP_005250218.1
XM_005250162.4 2937 Intron XP_005250219.1
XM_011515833.2 2937 Missense Mutation ACT,ATT T783I XP_011514135.1
XM_011515834.2 2937 Missense Mutation ACT,ATT T783I XP_011514136.1
XM_017011771.1 2937 Missense Mutation ACT,ATT T783I XP_016867260.1
XM_017011772.1 2937 Missense Mutation ACT,ATT T504I XP_016867261.1

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