Product Details

SNP ID
rs150445034
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:18894232 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCTGCAAGAACAGCTGACTGGCC[A/G]TCTGCACGATCTGGTCCACGTGGAT
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 3387 Missense Mutation ACG,ATG T1170M NP_000283.1
XM_005274548.4 3387 Missense Mutation ACG,ATG T1152M XP_005274605.1
XM_005274550.4 3387 Missense Mutation ACG,ATG T1142M XP_005274607.1
XM_006724496.3 3387 Missense Mutation ACG,ATG T1178M XP_006724559.1
XM_006724498.3 3387 Missense Mutation ACG,ATG T996M XP_006724561.1
XM_011545537.2 3387 Missense Mutation ACG,ATG T1145M XP_011543839.1
XM_011545538.2 3387 Missense Mutation ACG,ATG T839M XP_011543840.1
XM_017029580.1 3387 Missense Mutation ACG,ATG T876M XP_016885069.1
Gene
PHKA2-AS1
Gene Name
PHKA2 antisense RNA 1
There are no transcripts associated with this gene.

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