Product Details

SNP ID
rs200054284
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:18893595 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCCACTCGGAGCGCTGTCATAAA[A/G]GAAGTGGCAGATTCCTGTGGCTTGG
Phenotype
MIM: 300798
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PHKA2 PubMed Links

Gene Details

Gene
PHKA2
Gene Name
phosphorylase kinase regulatory subunit alpha 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000292.2 3476 Missense Mutation CTT,TTT L1200F NP_000283.1
XM_005274548.4 3476 Missense Mutation CTT,TTT L1182F XP_005274605.1
XM_005274550.4 3476 Missense Mutation CTT,TTT L1172F XP_005274607.1
XM_006724496.3 3476 Missense Mutation CTT,TTT L1208F XP_006724559.1
XM_006724498.3 3476 Missense Mutation CTT,TTT L1026F XP_006724561.1
XM_011545537.2 3476 Missense Mutation CTT,TTT L1175F XP_011543839.1
XM_011545538.2 3476 Missense Mutation CTT,TTT L869F XP_011543840.1
XM_017029580.1 3476 Missense Mutation CTT,TTT L906F XP_016885069.1
Gene
PHKA2-AS1
Gene Name
PHKA2 antisense RNA 1
There are no transcripts associated with this gene.

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