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SNP ID: rs200748051
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.22:19131649 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTACGAGATCTTTGAGACCTCTGAC[A/G]GACGGATCTACATCATCATGGAGCT
Phenotype: MIM: 601755 MIM: 600594 MIM: 610710
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: DGCR14 PubMed Links

Gene Details

Gene: DGCR14
Gene Name: DiGeorge syndrome critical region gene 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022719.2	4015	UTR 3			NP_073210.1
XM_005261282.4	4015	Intron			XP_005261339.1
XM_006724329.3	4015	Intron			XP_006724392.1
XM_006724330.3	4015	Intron			XP_006724393.1
XM_006724331.3	4015	Intron			XP_006724394.1
XM_011530403.1	4015	Intron			XP_011528705.1
XM_011530404.2	4015	Intron			XP_011528706.1
XM_017028958.1	4015	Intron			XP_016884447.1
XM_017028959.1	4015	Intron			XP_016884448.1

Gene: DGCR2
Gene Name: DiGeorge syndrome critical region gene 2

There are no transcripts associated with this gene.

Gene: TSSK2
Gene Name: testis specific serine kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_053006.4	4015	Missense Mutation	AGA,GGA	R84G	NP_443732.3

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