Product Details

SNP ID

rs431289

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.22:18909196 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AGAAACAGGAGATTGGGGAAGGCTG[T/C]AGGCACAGCTGGAGCCAGGCTACCT

Phenotype

MIM: 601279 MIM: 606810

Polymorphism

T/C, Transition Substitution

Allele Nomenclature

Literature Links

DGCR6 PubMed Links

Additional Information

For this assay, SNP(s) [rs115691424] 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

DGCR6

Gene Name

DiGeorge syndrome critical region gene 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005675.4		Intron			NP_005666.2
XM_011530394.1		Intron			XP_011528696.1

Gene

PRODH

Gene Name

proline dehydrogenase 1

There are no transcripts associated with this gene.

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