Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGAGTATTTACTAACTTTTGACAAA[T/G]GTCAGAACTGGAAAGAATTTCTTCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 600259 | ||||||||||||||||||||
Literature Links: |
PMS2 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 |
PMS2 - PMS1 homolog 2, mismatch repair system component | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000535.6 | 1801 | Missense Mutation | ATT,CTT | I,L 590 | NP_000526.2 | |
NM_001322003.1 | 1801 | Missense Mutation | ATT,CTT | I,L 455 | NP_001308932.1 | |
NM_001322004.1 | 1801 | Missense Mutation | ATT,CTT | I,L 455 | NP_001308933.1 | |
NM_001322005.1 | 1801 | Missense Mutation | ATT,CTT | I,L 455 | NP_001308934.1 | |
NM_001322006.1 | 1801 | Missense Mutation | ATT,CTT | I,L 538 | NP_001308935.1 | |
NM_001322007.1 | 1801 | Missense Mutation | ATT,CTT | I,L 484 | NP_001308936.1 | |
NM_001322008.1 | 1801 | Missense Mutation | ATT,CTT | I,L 484 | NP_001308937.1 | |
NM_001322009.1 | 1801 | Missense Mutation | ATT,CTT | I,L 455 | NP_001308938.1 | |
NM_001322010.1 | 1801 | Missense Mutation | ATT,CTT | I,L 403 | NP_001308939.1 | |
NM_001322011.1 | 1801 | Missense Mutation | ATT,CTT | I,L 279 | NP_001308940.1 | |
NM_001322012.1 | 1801 | Missense Mutation | ATT,CTT | I,L 279 | NP_001308941.1 | |
NM_001322013.1 | 1801 | Missense Mutation | ATT,CTT | I,L 399 | NP_001308942.1 | |
NM_001322014.1 | 1801 | Missense Mutation | ATT,CTT | I,L 590 | NP_001308943.1 | |
NM_001322015.1 | 1801 | Missense Mutation | ATT,CTT | I,L 487 | NP_001308944.1 | |
XM_006715744.3 | 1801 | Intron | XP_006715807.1 | |||
XM_017012342.1 | 1801 | Missense Mutation | ATT,CTT | I,L 279 | XP_016867831.1 |