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AGCGCGAAAAAGCACGTGGGCAGAG[C/G]TGGCAGCGGAAGGGGCGCTGCCCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 126350 MIM: 608801 MIM: 600599 MIM: 612256 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNASE2 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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DNASE2 - deoxyribonuclease II, lysosomal | ||||||
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There are no transcripts associated with this gene. |
GCDH - glutaryl-CoA dehydrogenase | ||||||
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There are no transcripts associated with this gene. |
KLF1 - Kruppel like factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_011527642.2 | 1099 | Missense Mutation | CAC,CAG | H,Q 304 | XP_011525944.1 |
MAST1 - microtubule associated serine/threonine kinase 1 | ||||||
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There are no transcripts associated with this gene. |