Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGGGCTGAAGTGCCGCACTTCCTC[C/T]ACCAAGTACTGCTGGAAGAAGGGGT
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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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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 | 1047 | Silent Mutation | GTA,GTG | V,V 325 | NP_001245388.1 | |
NM_001258460.1 | 1047 | Silent Mutation | GTA,GTG | V,V 284 | NP_001245389.1 | |
NM_006213.4 | 1047 | Silent Mutation | GTA,GTG | V,V 293 | NP_006204.1 | |
XM_005271772.4 | 1047 | Silent Mutation | GTA,GTG | V,V 215 | XP_005271829.1 | |
XM_017012324.1 | 1047 | Silent Mutation | GTA,GTG | V,V 338 | XP_016867813.1 | |
XM_017012325.1 | 1047 | Silent Mutation | GTA,GTG | V,V 284 | XP_016867814.1 | |
XM_017012326.1 | 1047 | Silent Mutation | GTA,GTG | V,V 260 | XP_016867815.1 | |
XM_017012327.1 | 1047 | Silent Mutation | GTA,GTG | V,V 232 | XP_016867816.1 |
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 | 1047 | Intron | NP_001035934.2 | |||
NM_001042470.1 | 1047 | Intron | NP_001035935.2 | |||
NM_001130069.2 | 1047 | Intron | NP_001123541.1 | |||
NM_001146333.1 | 1047 | Intron | NP_001139805.1 | |||
NM_015411.2 | 1047 | Intron | NP_056226.2 | |||
XM_011515254.2 | 1047 | Intron | XP_011513556.1 | |||
XM_017011939.1 | 1047 | Intron | XP_016867428.1 | |||
XM_017011940.1 | 1047 | Intron | XP_016867429.1 |
Set Membership: |
HapMap |