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TGGCAGGAAAAGCCAAAGTCTGTGA[A/G]CTTGATGTTCATGTTGTCATCCAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 172470 MIM: 607940 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PHKG1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PHKG1 - phosphorylase kinase catalytic subunit gamma 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258459.1 | 664 | Missense Mutation | NP_001245388.1 | |||
NM_001258460.1 | 664 | Missense Mutation | NP_001245389.1 | |||
NM_006213.4 | 664 | Missense Mutation | NP_006204.1 | |||
XM_005271772.4 | 664 | Missense Mutation | XP_005271829.1 | |||
XM_017012324.1 | 664 | Missense Mutation | XP_016867813.1 | |||
XM_017012325.1 | 664 | Missense Mutation | XP_016867814.1 | |||
XM_017012326.1 | 664 | Missense Mutation | XP_016867815.1 | |||
XM_017012327.1 | 664 | Missense Mutation | XP_016867816.1 |
SUMF2 - sulfatase modifying factor 2 | ||||||
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There are no transcripts associated with this gene. |