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Search Thermo Fisher Scientific
GGTGCAGTGGGTGCTGGCCCGCACT[A/G]TGGTGTCCTCCCCATCGGCAATCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300081 MIM: 312173 MIM: 300394 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNASE1L1 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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DNASE1L1 - deoxyribonuclease I-like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001009932.2 | 1281 | Missense Mutation | ACA,ATA | T,I 217 | NP_001009932.1 | |
NM_001009933.2 | 1281 | Missense Mutation | ACA,ATA | T,I 217 | NP_001009933.1 | |
NM_001009934.2 | 1281 | Missense Mutation | ACA,ATA | T,I 217 | NP_001009934.1 | |
NM_001303620.1 | 1281 | Missense Mutation | ACA,ATA | T,I 217 | NP_001290549.1 | |
NM_006730.3 | 1281 | Missense Mutation | ACA,ATA | T,I 217 | NP_006721.1 | |
XM_005277829.4 | 1281 | Missense Mutation | ACA,ATA | T,I 217 | XP_005277886.1 | |
XM_011531122.2 | 1281 | Missense Mutation | ACA,ATA | T,I 217 | XP_011529424.1 | |
XM_017029332.1 | 1281 | Missense Mutation | ACA,ATA | T,I 217 | XP_016884821.1 |
LOC107987332 - uncharacterized LOC107987332 | ||||||
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There are no transcripts associated with this gene. |
RPL10 - ribosomal protein L10 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256577.2 | 1281 | Intron | NP_001243506.2 | |||
NM_001256580.2 | 1281 | Intron | NP_001243509.2 | |||
NM_001303624.1 | 1281 | Intron | NP_001290553.1 | |||
NM_001303625.1 | 1281 | Intron | NP_001290554.1 | |||
NM_001303626.1 | 1281 | Intron | NP_001290555.1 | |||
NM_006013.4 | 1281 | Intron | NP_006004.3 |
SNORA70 - small nucleolar RNA, H/ACA box 70 | ||||||
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There are no transcripts associated with this gene. |
TAZ - tafazzin | ||||||
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There are no transcripts associated with this gene. |