Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCCACACTGATGTCATCACGCCGG[C/T]GCTTGCCCCCCACGCACACGCGCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 605997 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PPP2R2C 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
|
PPP2R2C - protein phosphatase 2 regulatory subunit Bgamma | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206994.1 | 1274 | Missense Mutation | CAC,CGC | H,R 392 | NP_001193923.1 | |
NM_001206995.1 | 1274 | Missense Mutation | CAC,CGC | H,R 392 | NP_001193924.1 | |
NM_001206996.1 | 1274 | Missense Mutation | CAC,CGC | H,R 382 | NP_001193925.1 | |
NM_020416.3 | 1274 | Missense Mutation | CAC,CGC | H,R 399 | NP_065149.2 | |
NM_181876.2 | 1274 | Missense Mutation | CAC,CGC | H,R 399 | NP_870991.1 | |
XM_005247979.4 | 1274 | Missense Mutation | CAC,CGC | H,R 182 | XP_005248036.1 | |
XM_011513495.1 | 1274 | Missense Mutation | CAC,CGC | H,R 385 | XP_011511797.1 | |
XM_011513496.1 | 1274 | Missense Mutation | CAC,CGC | H,R 244 | XP_011511798.1 |