Product Details

SNP ID
rs3747051
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:19131388 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GATGTAGACGGCAGCGGCGCCAGTC[A/G]CTCCTGGCACCATGGACGATGCCAC
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 4276 UTR 3 NP_073210.1
XM_005261282.4 4276 Intron XP_005261339.1
XM_006724329.3 4276 Intron XP_006724392.1
XM_006724330.3 4276 Intron XP_006724393.1
XM_006724331.3 4276 Intron XP_006724394.1
XM_011530403.1 4276 Intron XP_011528705.1
XM_011530404.2 4276 Intron XP_011528706.1
XM_017028958.1 4276 Intron XP_016884447.1
XM_017028959.1 4276 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 4276 UTR 5 NP_443732.3

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