Product Details

SNP ID

rs140155924

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:56081753 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGTTGCACCACCAGGAATCGGGA[A/G]ACCTGTGAGAGGAGGAGAGGGGAAC

Phenotype

MIM: 172470 MIM: 607940

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

PHKG1 PubMed Links

Additional Information

For this assay, SNP(s) [rs12538444] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	963	Silent Mutation	GTC,GTT	V297V	NP_001245388.1
NM_001258460.1	963	Silent Mutation	GTC,GTT	V256V	NP_001245389.1
NM_006213.4	963	Silent Mutation	GTC,GTT	V265V	NP_006204.1
XM_005271772.4	963	Silent Mutation	GTC,GTT	V187V	XP_005271829.1
XM_017012324.1	963	Silent Mutation	GTC,GTT	V310V	XP_016867813.1
XM_017012325.1	963	Silent Mutation	GTC,GTT	V256V	XP_016867814.1
XM_017012326.1	963	Silent Mutation	GTC,GTT	V232V	XP_016867815.1
XM_017012327.1	963	Silent Mutation	GTC,GTT	V204V	XP_016867816.1

Gene

SUMF2

Gene Name

sulfatase modifying factor 2

There are no transcripts associated with this gene.

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