Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CACAATGAGCTGAAACACAGGGCTT[C/T]GCAACGACTCACTCTCTTTGGCACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 610355 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PALB2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
PALB2 - partner and localizer of BRCA2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024675.3 | 3549 | Missense Mutation | CAA,CGA | Q,R 1086 | NP_078951.2 | |
XM_011545946.2 | 3549 | Missense Mutation | CAA,CGA | Q,R 1088 | XP_011544248.1 | |
XM_011545947.2 | 3549 | Intron | XP_011544249.1 | |||
XM_011545948.2 | 3549 | Missense Mutation | CAA,CGA | Q,R 791 | XP_011544250.1 | |
XM_017023671.1 | 3549 | Intron | XP_016879160.1 | |||
XM_017023672.1 | 3549 | Intron | XP_016879161.1 | |||
XM_017023673.1 | 3549 | Intron | XP_016879162.1 |