Product Details

SNP ID
rs139074430
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:48149663 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCCCTGACTAGCAGAGCCACCAG[A/G]CGGGAGATGGGTGTCTGGCCTATTA
Phenotype
MIM: 615053 MIM: 610681
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ASB8 PubMed Links

Gene Details

Gene
ASB8
Gene Name
ankyrin repeat and SOCS box containing 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319296.1 794 Silent Mutation CGC,CGT R190R NP_001306225.1
NM_001319297.1 794 Silent Mutation CGC,CGT R190R NP_001306226.1
NM_001319298.1 794 Silent Mutation CGC,CGT R129R NP_001306227.1
NM_001319299.1 794 Silent Mutation CGC,CGT R129R NP_001306228.1
NM_001319300.1 794 UTR 3 NP_001306229.1
NM_001319301.1 794 UTR 3 NP_001306230.1
NM_024095.4 794 Silent Mutation CGC,CGT R190R NP_077000.1
Gene
PFKM
Gene Name
phosphofructokinase, muscle
There are no transcripts associated with this gene.

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