Product Details

SNP ID

rs5993479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:19047320 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCCACCCAGCAGCCCCCCAGTG[C/T]GGAGGGACACTGACAACATTCCACT

Phenotype

MIM: 600594

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DGCR11 PubMed Links

Gene Details

Gene

DGCR11

Gene Name

DiGeorge syndrome critical region gene 11 (non-protein coding)

There are no transcripts associated with this gene.

Gene

DGCR2

Gene Name

DiGeorge syndrome critical region gene 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173533.1		Intron			NP_001167004.1
NM_001173534.1		Intron			NP_001167005.1
NM_001184781.1		Intron			NP_001171710.1
NM_005137.2		Intron			NP_005128.1

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