Product Details

SNP ID
rs201721760
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:56086976 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGTGCTGGGTACTTACAGGTCA[A/G]ACACCAAGAAGAAGAAAGTGTTGGT
Phenotype
MIM: 172470 MIM: 607940
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PHKG1 PubMed Links

Gene Details

Gene
PHKG1
Gene Name
phosphorylase kinase catalytic subunit gamma 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258459.1 479 Missense Mutation NP_001245388.1
NM_001258460.1 479 Missense Mutation NP_001245389.1
NM_006213.4 479 Missense Mutation NP_006204.1
XM_005271772.4 479 Intron XP_005271829.1
XM_017012324.1 479 Missense Mutation XP_016867813.1
XM_017012325.1 479 Intron XP_016867814.1
XM_017012326.1 479 Intron XP_016867815.1
XM_017012327.1 479 Intron XP_016867816.1
Gene
SUMF2
Gene Name
sulfatase modifying factor 2
There are no transcripts associated with this gene.

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