Product Details

SNP ID
rs145272281
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:72593267 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACTACTTGGAGTCATAGAGGTT[C/G]CAGGTGACTTGGAAGAGGAGAGGAA
Phenotype
MIM: 311870
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PHKA1 PubMed Links

Gene Details

Gene
PHKA1
Gene Name
phosphorylase kinase regulatory subunit alpha 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122670.1 3046 Missense Mutation GCA,GGA A1014G NP_001116142.1
NM_001172436.1 3046 Missense Mutation GCA,GGA A955G NP_001165907.1
NM_002637.3 3046 Missense Mutation GCA,GGA A1027G NP_002628.2
XM_006724661.2 3046 Missense Mutation GCA,GGA A968G XP_006724724.1

View Full Product Details