Product Details

SNP ID

rs73491506

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48789520 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCATCCCACAGGTCTCAGCTCAGC[T/C]CCAGCCCATCACCACCCCCAATACA

Phenotype

MIM: 305371

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

GATA1 PubMed Links

Gene Details

Gene

GATA1

Gene Name

GATA binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002049.3		Intron			NP_002040.1
XM_011543897.2		Intron			XP_011542199.1
XM_011543898.2		Intron			XP_011542200.1

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