Product Details

SNP ID
rs143575360
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:53492498 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAGGCCAGCAACATGAACACTTT[C/T]ATTGTGCTGTTCTTCAGGCTTCTTC
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 1024 Missense Mutation AAA,GAA K265E NP_001012398.1
NM_001308325.1 1024 Missense Mutation AAA,GAA K266E NP_001295254.1
NM_022476.3 1024 Missense Mutation AAA,GAA K265E NP_071921.1
XM_005256095.4 1024 Missense Mutation AAA,GAA K266E XP_005256152.1
XM_005256096.4 1024 Missense Mutation AAA,GAA K266E XP_005256153.1
XM_005256097.4 1024 Intron XP_005256154.1
XM_005256098.4 1024 Missense Mutation AAA,GAA K266E XP_005256155.1
XM_017023564.1 1024 Missense Mutation AAA,GAA K265E XP_016879053.1
XM_017023565.1 1024 Intron XP_016879054.1
XM_017023566.1 1024 Intron XP_016879055.1
Gene
RBL2
Gene Name
RB transcriptional corepressor like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323608.1 1024 Intron NP_001310537.1
NM_001323609.1 1024 Intron NP_001310538.1
NM_001323610.1 1024 Intron NP_001310539.1
NM_001323611.1 1024 Intron NP_001310540.1
NM_005611.3 1024 Intron NP_005602.3
XM_011523253.2 1024 Intron XP_011521555.1
XM_017023513.1 1024 Intron XP_016879002.1

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