Product Details

SNP ID: rs143676147
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:49878500 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCCGCCTCCCTCCTTACCCTAGGA[C/T]AATGACGTCCTCCTGCACTGGGCTC
Phenotype: MIM: 610221 MIM: 616659
Polymorphism: C/T, 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	323	Intron			NP_001092102.1
NM_001098633.3	323	Intron			NP_001092103.1
NM_001278159.1	323	Intron			NP_001265088.1
NM_001278160.1	323	Intron			NP_001265089.1
NM_032375.5	323	Intron			NP_115751.3

Gene: MIR4750
Gene Name: microRNA 4750

There are no transcripts associated with this gene.

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	323	Silent Mutation	GAC,GAT	D8D	NP_001161694.1
NM_024682.2	323	Silent Mutation	GAC,GAT	D41D	NP_078958.2
XM_011527317.2	323	Silent Mutation	GAC,GAT	D41D	XP_011525619.1

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