Product Details

SNP ID
rs146543385
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:56074717 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACGGAGGAAGAGTGGGAGTTTGC[C/T]GCCCGAGGGGGCTTGAAGGGTATCC
Phenotype
MIM: 172470 MIM: 607940
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PHKG1 PubMed Links

Gene Details

Gene
PHKG1
Gene Name
phosphorylase kinase catalytic subunit gamma 1
There are no transcripts associated with this gene.

Gene
SUMF2
Gene Name
sulfatase modifying factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042469.1 604 Silent Mutation GCC,GCT A176A NP_001035934.2
NM_001042470.1 604 Intron NP_001035935.2
NM_001130069.2 604 Silent Mutation GCC,GCT A191A NP_001123541.1
NM_001146333.1 604 Silent Mutation GCC,GCT A84A NP_001139805.1
NM_015411.2 604 Silent Mutation GCC,GCT A191A NP_056226.2
XM_011515254.2 604 Silent Mutation GCC,GCT A191A XP_011513556.1
XM_017011939.1 604 Silent Mutation GCC,GCT A191A XP_016867428.1
XM_017011940.1 604 Silent Mutation GCC,GCT A176A XP_016867429.1

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