Product Details

SNP ID
rs144737346
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49878168 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGTGTTTGAGAAGGGCGGAGTGT[A/G]CCTGCACACCAGCGCTAAGAAGTAT
Phenotype
MIM: 610221 MIM: 616659
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AKT1S1 PubMed Links

Gene Details

Gene
AKT1S1
Gene Name
AKT1 substrate 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098632.2 346 Intron NP_001092102.1
NM_001098633.3 346 Intron NP_001092103.1
NM_001278159.1 346 Intron NP_001265088.1
NM_001278160.1 346 Intron NP_001265089.1
NM_032375.5 346 Intron NP_115751.3
Gene
TBC1D17
Gene Name
TBC1 domain family member 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168222.1 346 Intron NP_001161694.1
NM_024682.2 346 Missense Mutation TAC,TGC Y16C NP_078958.2
XM_011527317.2 346 Missense Mutation TAC,TGC Y16C XP_011525619.1

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