Product Details

SNP ID
rs138280296
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:18894324 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGCACCATGATGGCTTCCACCAG[C/T]AGCTGCCGGTACTCGGGCTGCGGCA
Phenotype
MIM: 300798
Polymorphism
C/T, 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 3295 Silent Mutation CTA,CTG L1139L NP_000283.1
XM_005274548.4 3295 Silent Mutation CTA,CTG L1121L XP_005274605.1
XM_005274550.4 3295 Silent Mutation CTA,CTG L1111L XP_005274607.1
XM_006724496.3 3295 Silent Mutation CTA,CTG L1147L XP_006724559.1
XM_006724498.3 3295 Silent Mutation CTA,CTG L965L XP_006724561.1
XM_011545537.2 3295 Silent Mutation CTA,CTG L1114L XP_011543839.1
XM_011545538.2 3295 Silent Mutation CTA,CTG L808L XP_011543840.1
XM_017029580.1 3295 Silent Mutation CTA,CTG L845L XP_016885069.1
Gene
PHKA2-AS1
Gene Name
PHKA2 antisense RNA 1
There are no transcripts associated with this gene.

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