Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGGCATCCGAGAGAGACTGGAGCAC[C/G]CAGTGTTACACGTGAGCTGGAATGA
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 |
---|---|---|
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 |
PHKG1 - phosphorylase kinase catalytic subunit gamma 1 | ||||||
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There are no transcripts associated with this gene. |
SUMF2 - sulfatase modifying factor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042469.1 | 515 | Missense Mutation | CCA,GCA | P,A 147 | NP_001035934.2 | |
NM_001042470.1 | 515 | Intron | NP_001035935.2 | |||
NM_001130069.2 | 515 | Missense Mutation | CCA,GCA | P,A 162 | NP_001123541.1 | |
NM_001146333.1 | 515 | Missense Mutation | CCA,GCA | P,A 55 | NP_001139805.1 | |
NM_015411.2 | 515 | Missense Mutation | CCA,GCA | P,A 162 | NP_056226.2 | |
XM_011515254.2 | 515 | Missense Mutation | CCA,GCA | P,A 162 | XP_011513556.1 | |
XM_017011939.1 | 515 | Missense Mutation | CCA,GCA | P,A 162 | XP_016867428.1 | |
XM_017011940.1 | 515 | Missense Mutation | CCA,GCA | P,A 147 | XP_016867429.1 |