Product Details

SNP ID
rs147383987
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:48149510 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTTCCTGGAGCTGAGCACAGAAC[A/C]GTCAGTTTTTCACATAGCTGCGGGT
Phenotype
MIM: 615053 MIM: 610681
Polymorphism
A/C, Transversion 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_001319296.1 947 Silent Mutation ACG,ACT T241T NP_001306225.1
NM_001319297.1 947 Silent Mutation ACG,ACT T241T NP_001306226.1
NM_001319298.1 947 Silent Mutation ACG,ACT T180T NP_001306227.1
NM_001319299.1 947 Silent Mutation ACG,ACT T180T NP_001306228.1
NM_001319300.1 947 UTR 3 NP_001306229.1
NM_001319301.1 947 UTR 3 NP_001306230.1
NM_024095.4 947 Silent Mutation ACG,ACT T241T NP_077000.1
Gene
PFKM
Gene Name
phosphofructokinase, muscle
There are no transcripts associated with this gene.

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