Product Details

SNP ID

rs118040540

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:18906991 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGCCCCACCCCCTTCCAGGCCT[A/G]ATGGCCCTAGGCCTCCGTGCTTGGT

Phenotype

MIM: 601279 MIM: 606810

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DGCR6 PubMed Links

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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