Product Details

SNP ID

rs141313937

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:56074722 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAAGAGTGGGAGTTTGCCGCCC[A/G]AGGGGGCTTGAAGGGTATCCAGATG

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

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	609	Missense Mutation	CAA,CGA	Q178R	NP_001035934.2
NM_001042470.1	609	Intron			NP_001035935.2
NM_001130069.2	609	Missense Mutation	CAA,CGA	Q193R	NP_001123541.1
NM_001146333.1	609	Missense Mutation	CAA,CGA	Q86R	NP_001139805.1
NM_015411.2	609	Missense Mutation	CAA,CGA	Q193R	NP_056226.2
XM_011515254.2	609	Missense Mutation	CAA,CGA	Q193R	XP_011513556.1
XM_017011939.1	609	Missense Mutation	CAA,CGA	Q193R	XP_016867428.1
XM_017011940.1	609	Missense Mutation	CAA,CGA	Q178R	XP_016867429.1

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