Product Details

SNP ID
rs61731846
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:53494416 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCCTTGCATACATTAATACCTG[C/T]CAAATATGATTATGGTTCCGCCTAA
Phenotype
MIM: 608483 MIM: 180203
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AKTIP PubMed Links

Gene Details

Gene
AKTIP
Gene Name
AKT interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001012398.2 753 Nonsense Mutation TGA,TGG *175W NP_001012398.1
NM_001308325.1 753 Nonsense Mutation TGA,TGG *175W NP_001295254.1
NM_022476.3 753 Nonsense Mutation TGA,TGG *175W NP_071921.1
XM_005256095.4 753 Nonsense Mutation TGA,TGG *175W XP_005256152.1
XM_005256096.4 753 Nonsense Mutation TGA,TGG *175W XP_005256153.1
XM_005256097.4 753 Intron XP_005256154.1
XM_005256098.4 753 Nonsense Mutation TGA,TGG *175W XP_005256155.1
XM_017023564.1 753 Nonsense Mutation TGA,TGG *175W XP_016879053.1
XM_017023565.1 753 Intron XP_016879054.1
XM_017023566.1 753 Intron XP_016879055.1
Gene
RBL2
Gene Name
RB transcriptional corepressor like 2
There are no transcripts associated with this gene.

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