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ATCACTATTGACGAGGAATGCCTCC[C/T]GACACTGCTGGTAAAAATCTTGAAA
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605778 MIM: 601182 | |||||||||||||||||||||||||||||
Literature Links: |
NIF3L1 PubMed Links | |||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
NIF3L1 - NGG1 interacting factor 3 like 1 | ||||||
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There are no transcripts associated with this gene. |
ORC2 - origin recognition complex subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006190.4 | 1895 | Missense Mutation | CAG,CGG | Q,R 521 | NP_006181.1 | |
XM_006712555.3 | 1895 | Missense Mutation | CAG,CGG | Q,R 521 | XP_006712618.1 | |
XM_011511252.2 | 1895 | Missense Mutation | CAG,CGG | Q,R 541 | XP_011509554.1 | |
XM_011511253.2 | 1895 | Missense Mutation | CAG,CGG | Q,R 541 | XP_011509555.1 |
Set Membership: |
HapMap |