Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCAAATTTTGGAGCCTGTTAAGCA[A/T]CACATCCCCTTGCGTAATCTTGGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 612449 MIM: 609387 | ||||||||||||||||||||
Literature Links: |
GEN1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
GEN1 - GEN1, Holliday junction 5' flap endonuclease | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130009.2 | 143 | Missense Mutation | CAA,CAT | Q,H 15 | NP_001123481.2 | |
NM_182625.4 | 143 | Missense Mutation | CAA,CAT | Q,H 15 | NP_872431.4 | |
XM_005262613.4 | 143 | Missense Mutation | CAA,CAT | Q,H 15 | XP_005262670.1 | |
XM_006712005.3 | 143 | Missense Mutation | CAA,CAT | Q,H 15 | XP_006712068.1 | |
XM_011532820.2 | 143 | Missense Mutation | CAA,CAT | Q,H 15 | XP_011531122.1 | |
XM_011532821.2 | 143 | Missense Mutation | CAA,CAT | Q,H 15 | XP_011531123.1 | |
XM_011532822.2 | 143 | Missense Mutation | CAA,CAT | Q,H 15 | XP_011531124.1 |
SMC6 - structural maintenance of chromosomes 6 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |