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TAATCTTGGTGGGAAAACCATTGCA[A/G]TTGATCTGAGTCTCTGGGTGTGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612449 MIM: 609387 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GEN1 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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GEN1 - GEN1, Holliday junction 5' flap endonuclease | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130009.2 | 183 | Missense Mutation | ATT,GTT | I,V 29 | NP_001123481.2 | |
NM_182625.4 | 183 | Missense Mutation | ATT,GTT | I,V 29 | NP_872431.4 | |
XM_005262613.4 | 183 | Missense Mutation | ATT,GTT | I,V 29 | XP_005262670.1 | |
XM_006712005.3 | 183 | Missense Mutation | ATT,GTT | I,V 29 | XP_006712068.1 | |
XM_011532820.2 | 183 | Missense Mutation | ATT,GTT | I,V 29 | XP_011531122.1 | |
XM_011532821.2 | 183 | Missense Mutation | ATT,GTT | I,V 29 | XP_011531123.1 | |
XM_011532822.2 | 183 | Missense Mutation | ATT,GTT | I,V 29 | XP_011531124.1 |
SMC6 - structural maintenance of chromosomes 6 | ||||||
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There are no transcripts associated with this gene. |