Product Details

SNP ID

rs112353780

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:62465443 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGCTGGCGACAGCAGATGGGGAG[G/A]CCGAGGCATTCCTTGTGGATCCTGG

Phenotype

MIM: 611496

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

GATA5 PubMed Links

Gene Details

Gene

GATA5

Gene Name

GATA binding protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080473.4	997	Missense Mutation	GCC,GTC	A312V	NP_536721.1
XM_006723699.3	997	Missense Mutation	GCC,GTC	A312V	XP_006723762.1

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