Product Details

SNP ID
rs202007590
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:72582532 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTCAACCAGCAGCTGACGGTACT[C/G]TGGCTGAGGTACACGATTCAGGACA
Phenotype
MIM: 300269 MIM: 311870
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HDAC8 PubMed Links

Gene Details

Gene
HDAC8
Gene Name
histone deacetylase 8
There are no transcripts associated with this gene.

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 3330 Missense Mutation CAG,GAG Q1109E NP_001116142.1
NM_001172436.1 3330 Missense Mutation CAG,GAG Q1050E NP_001165907.1
NM_002637.3 3330 Missense Mutation CAG,GAG Q1122E NP_002628.2
XM_006724661.2 3330 Missense Mutation CAG,GAG Q1063E XP_006724724.1

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