Product Details

SNP ID
rs148657671
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48802778 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTCGCCCCCTCAGGACTCCAGTG[A/T]CACTTCGGTGAGGCCCTAGACCCGC
Phenotype
MIM: 305371 MIM: 300272
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GATA1 PubMed Links

Gene Details

Gene
GATA1
Gene Name
GATA binding protein 1
There are no transcripts associated with this gene.

Gene
HDAC6
Gene Name
histone deacetylase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321225.1 373 Missense Mutation GAC,GTC D43V NP_001308154.1
NM_001321226.1 373 Missense Mutation GAC,GTC D29V NP_001308155.1
NM_001321227.1 373 Missense Mutation GAC,GTC D29V NP_001308156.1
NM_001321228.1 373 Missense Mutation GAC,GTC D29V NP_001308157.1
NM_001321229.1 373 Missense Mutation GAC,GTC D29V NP_001308158.1
NM_001321230.1 373 Missense Mutation GAC,GTC D29V NP_001308159.1
NM_001321231.1 373 Missense Mutation GAC,GTC D29V NP_001308160.1
NM_006044.3 373 Missense Mutation GAC,GTC D29V NP_006035.2
XM_017029187.1 373 Missense Mutation GAC,GTC D43V XP_016884676.1

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