Product Details

SNP ID

rs147945739

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143440214 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCGTGGTCCAAGGAAGCGGGAGGG[G/T]ATGAGGAGGAGGAGGAGGAGGAGGA

Phenotype

MIM: 610303

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

MAFA PubMed Links

Additional Information

For this assay, SNP(s) [rs2272753,rs2272754] 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

MAFA

Gene Name

MAF bZIP transcription factor A

There are no transcripts associated with this gene.

Gene

ZC3H3

Gene Name

zinc finger CCCH-type containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015117.2	2671	Missense Mutation	TAC,TCC	Y881S	NP_055932.2
XM_006716536.3	2671	Missense Mutation	TAC,TCC	Y943S	XP_006716599.2
XM_011516943.2	2671	Intron			XP_011515245.1
XM_011516944.2	2671	Intron			XP_011515246.1
XM_017013248.1	2671	Missense Mutation	TAC,TCC	Y1009S	XP_016868737.1
XM_017013249.1	2671	Missense Mutation	TAC,TCC	Y1009S	XP_016868738.1

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