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CTCAGGCCCTTCTCGGCTCTCCGTT[C/G]TGCCTTACCAGGCCTATGGGATAAA
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 |
---|---|---|
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 |
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 | 232 | Missense Mutation | CAA,GAA | Q,E 61 | NP_001010896.2 | |
NM_001177483.1 | 232 | Missense Mutation | CAC,CAG | H,Q 72 | NP_001170954.1 |
NEBL - nebulette | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001173484.1 | 232 | Intron | NP_001166955.1 | |||
NM_006393.2 | 232 | Intron | NP_006384.1 | |||
NM_213569.2 | 232 | Intron | NP_998734.1 | |||
XM_005252342.4 | 232 | Intron | XP_005252399.1 | |||
XM_005252343.4 | 232 | Intron | XP_005252400.1 | |||
XM_005252344.4 | 232 | Intron | XP_005252401.1 | |||
XM_011519291.2 | 232 | Intron | XP_011517593.1 | |||
XM_017015467.1 | 232 | Intron | XP_016870956.1 | |||
XM_017015468.1 | 232 | Intron | XP_016870957.1 | |||
XM_017015469.1 | 232 | Intron | XP_016870958.1 |