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GTCCTTCAGACATTTACAAAAAAGT[C/T]ATTTTCAGCACCTTCTTAGATACGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605491 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C10orf113 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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C10orf113 - chromosome 10 open reading frame 113 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010896.2 | 507 | Missense Mutation | NP_001010896.2 | |||
NM_001177483.1 | 507 | UTR 3 | NP_001170954.1 |
NEBL - nebulette | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001173484.1 | 507 | Intron | NP_001166955.1 | |||
NM_006393.2 | 507 | Intron | NP_006384.1 | |||
NM_213569.2 | 507 | Intron | NP_998734.1 | |||
XM_005252342.4 | 507 | Intron | XP_005252399.1 | |||
XM_005252343.4 | 507 | Intron | XP_005252400.1 | |||
XM_005252344.4 | 507 | Intron | XP_005252401.1 | |||
XM_011519291.2 | 507 | Intron | XP_011517593.1 | |||
XM_017015467.1 | 507 | Intron | XP_016870956.1 | |||
XM_017015468.1 | 507 | Intron | XP_016870957.1 | |||
XM_017015469.1 | 507 | Intron | XP_016870958.1 |