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TACTGCCCGAGGTTGCCCAGATCCA[C/T]GCTGGAGCCAAACATCTTCACCAGC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 176910 | |||||||||||||||||||||||
Literature Links: |
PRKAR2A PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
PRKAR2A - protein kinase cAMP-dependent type II regulatory subunit alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321982.1 | 1428 | Missense Mutation | ATG,GTG | M,V 397 | NP_001308911.1 | |
NM_001321983.1 | 1428 | Missense Mutation | ATG,GTG | M,V 375 | NP_001308912.1 | |
NM_001321989.1 | 1428 | Missense Mutation | ATG,GTG | M,V 369 | NP_001308918.1 | |
NM_004157.3 | 1428 | Missense Mutation | ATG,GTG | M,V 397 | NP_004148.1 | |
XM_005265315.3 | 1428 | UTR 3 | XP_005265372.1 | |||
XM_011533942.2 | 1428 | Missense Mutation | ATG,GTG | M,V 397 | XP_011532244.1 | |
XM_011533943.1 | 1428 | Intron | XP_011532245.1 | |||
XM_017006815.1 | 1428 | Missense Mutation | ATG,GTG | M,V 397 | XP_016862304.1 | |
XM_017006816.1 | 1428 | UTR 3 | XP_016862305.1 |