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Search Thermo Fisher Scientific
GACAGCAAACTTGATCTCATGCGGG[A/G]TCATCTACCAAAGGGACAGGCAGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300798 | ||||||||||||||||||||
Literature Links: |
PHKA2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
PHKA2 - phosphorylase kinase regulatory subunit alpha 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000292.2 | 3219 | Missense Mutation | ACC,ATC | T,I 1114 | NP_000283.1 | |
XM_005274548.4 | 3219 | Missense Mutation | ACC,ATC | T,I 1096 | XP_005274605.1 | |
XM_005274550.4 | 3219 | Missense Mutation | ACC,ATC | T,I 1086 | XP_005274607.1 | |
XM_006724496.3 | 3219 | Missense Mutation | ACC,ATC | T,I 1122 | XP_006724559.1 | |
XM_006724498.3 | 3219 | Missense Mutation | ACC,ATC | T,I 940 | XP_006724561.1 | |
XM_011545537.2 | 3219 | Missense Mutation | ACC,ATC | T,I 1089 | XP_011543839.1 | |
XM_011545538.2 | 3219 | Missense Mutation | ACC,ATC | T,I 783 | XP_011543840.1 | |
XM_017029580.1 | 3219 | Missense Mutation | ACC,ATC | T,I 820 | XP_016885069.1 |
PHKA2-AS1 - PHKA2 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |