Product Details

SNP ID

rs140317494

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:62464942 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGGCAAAGTCCTCAGGCTCGAAC[C/T]TGAACTCCAAGTGGCCGGGGGCAAG

Phenotype

MIM: 611496

Polymorphism

C/T, 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	1150	Missense Mutation	AAG,AGG	K363R	NP_536721.1
XM_006723699.3	1150	Missense Mutation	AAG,AGG	K363R	XP_006723762.1

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