Product Details

SNP ID
rs140225187
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:72593227 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCTTTAGATGACTGCTGATCATA[C/T]GCACTAGGAAAGGACCCACTACTTG
Phenotype
MIM: 311870
Polymorphism
C/T, Transition 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 3086 Silent Mutation GCA,GCG A1027A NP_001116142.1
NM_001172436.1 3086 Silent Mutation GCA,GCG A968A NP_001165907.1
NM_002637.3 3086 Silent Mutation GCA,GCG A1040A NP_002628.2
XM_006724661.2 3086 Silent Mutation GCA,GCG A981A XP_006724724.1

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