Product Details

SNP ID

rs80343014

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:48148483 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGACTGCTGTTTCCTTTGATGA[A/G]GGGAAAGAGGTCCAGTCCCTTCCAA

Phenotype

MIM: 615053 MIM: 610681

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ASB8 PubMed Links

Additional Information

For this assay, SNP(s) [rs76181949] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1974	UTR 3			NP_001306225.1
NM_001319297.1	1974	UTR 3			NP_001306226.1
NM_001319298.1	1974	UTR 3			NP_001306227.1
NM_001319299.1	1974	UTR 3			NP_001306228.1
NM_001319300.1	1974	UTR 3			NP_001306229.1
NM_001319301.1	1974	UTR 3			NP_001306230.1
NM_024095.4	1974	UTR 3			NP_077000.1

Gene

PFKM

Gene Name

phosphofructokinase, muscle

There are no transcripts associated with this gene.

View Full Product Details