Product Details

SNP ID

rs201116843

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:62464903 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCCTGAGGCCAGCCTGGGGGCTT[C/G]GGGCCGTGGAGGGGAAGGCAAAGTC

Phenotype

MIM: 611496

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

GATA5 PubMed Links

Additional Information

For this assay, SNP(s) [rs6061550] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1189	Missense Mutation	CCA,CGA	P376R	NP_536721.1
XM_006723699.3	1189	Missense Mutation	CCA,CGA	P376R	XP_006723762.1

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