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CCACCGGGACCTCAAGTGCGAGAAC[C/G]TTCTCCTCGACAAGGACTTCAACAT
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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DGCR14 - DiGeorge syndrome critical region gene 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022719.2 | 3841 | UTR 3 | NP_073210.1 | |||
XM_005261282.4 | 3841 | Intron | XP_005261339.1 | |||
XM_006724329.3 | 3841 | Intron | XP_006724392.1 | |||
XM_006724330.3 | 3841 | Intron | XP_006724393.1 | |||
XM_006724331.3 | 3841 | Intron | XP_006724394.1 | |||
XM_011530403.1 | 3841 | Intron | XP_011528705.1 | |||
XM_011530404.2 | 3841 | Intron | XP_011528706.1 | |||
XM_017028958.1 | 3841 | Intron | XP_016884447.1 | |||
XM_017028959.1 | 3841 | 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 | 3841 | Missense Mutation | CTT,GTT | L,V 142 | NP_443732.3 |