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ACATCGTCCACCGGGACCTCAAGTG[C/T]GAGAACCTTCTCCTCGACAAGGACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601755 MIM: 600594 MIM: 610710 | ||||||||||||||||||||
Literature Links: |
DGCR14 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
DGCR14 - DiGeorge syndrome critical region gene 14 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022719.2 | 3848 | UTR 3 | NP_073210.1 | |||
XM_005261282.4 | 3848 | Intron | XP_005261339.1 | |||
XM_006724329.3 | 3848 | Intron | XP_006724392.1 | |||
XM_006724330.3 | 3848 | Intron | XP_006724393.1 | |||
XM_006724331.3 | 3848 | Intron | XP_006724394.1 | |||
XM_011530403.1 | 3848 | Intron | XP_011528705.1 | |||
XM_011530404.2 | 3848 | Intron | XP_011528706.1 | |||
XM_017028958.1 | 3848 | Intron | XP_016884447.1 | |||
XM_017028959.1 | 3848 | Intron | XP_016884448.1 |
DGCR2 - DiGeorge syndrome critical region gene 2 | ||||||
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There are no transcripts associated with this gene. |
TSSK2 - testis specific serine kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_053006.4 | 3848 | Silent Mutation | TGC,TGT | C,C 139 | NP_443732.3 |