Product Details

SNP ID

rs2242508

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.7:56083796 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CCCTGCTCCCAGAGAGCTGCCTTCC[G/A]CCCTGATACCTCTAGAAGCTAAGTG

Phenotype

MIM: 172470 MIM: 607940

Polymorphism

G/A, 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		Intron			NP_001245388.1
NM_001258460.1		Intron			NP_001245389.1
NM_006213.4		Intron			NP_006204.1
XM_005271772.4		Intron			XP_005271829.1
XM_017012324.1		Intron			XP_016867813.1
XM_017012325.1		Intron			XP_016867814.1
XM_017012326.1		Intron			XP_016867815.1
XM_017012327.1		Intron			XP_016867816.1

Gene

SUMF2

Gene Name

sulfatase modifying factor 2

There are no transcripts associated with this gene.

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