Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTCTTAAGATATCAGGAATTATTC[G/T]TAAAACGGGAGAGAGTCAGAATCAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 613984 | ||||||||||||||||||||
Literature Links: |
CIDECP 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 |
CIDECP - cell death-inducing DFFA-like effector c pseudogene | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
FANCD2 - Fanconi anemia complementation group D2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018115.2 | 368 | Missense Mutation | CGT,CTT | R,L 59 | NP_001018125.1 | |
NM_001319984.1 | 368 | Missense Mutation | CGT,CTT | R,L 59 | NP_001306913.1 | |
NM_033084.4 | 368 | Missense Mutation | CGT,CTT | R,L 59 | NP_149075.2 |