Product Details

SNP ID

rs140052476

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:24225355 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACCATGGAGGATGGGGAACGCT[C/T]GCCTGGAACTGGGGGCCAGCACCTT

Phenotype

MIM: 137168

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GGT5 PubMed Links

Additional Information

For this assay, SNP(s) [rs7288201] 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

GGT5

Gene Name

gamma-glutamyltransferase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099781.2	1714	Missense Mutation	AAG,GAG	K466E	NP_001093251.1
NM_001099782.2	1714	Missense Mutation	AAG,GAG	K433E	NP_001093252.1
NM_001302464.1	1714	Missense Mutation	AAG,GAG	K433E	NP_001289393.1
NM_001302465.1	1714	Missense Mutation	AAG,GAG	K389E	NP_001289394.1
NM_004121.3	1714	Missense Mutation	AAG,GAG	K465E	NP_004112.2
XM_005261557.2	1714	Missense Mutation	AAG,GAG	K466E	XP_005261614.1
XM_005261558.2	1714	Missense Mutation	AAG,GAG	K465E	XP_005261615.1
XM_011530133.1	1714	Missense Mutation	AAG,GAG	K471E	XP_011528435.1
XM_011530134.1	1714	Missense Mutation	AAG,GAG	K471E	XP_011528436.1
XM_011530135.1	1714	Missense Mutation	AAG,GAG	K439E	XP_011528437.1
XM_011530136.1	1714	Missense Mutation	AAG,GAG	K471E	XP_011528438.1
XM_011530137.2	1714	Missense Mutation	AAG,GAG	K471E	XP_011528439.1
XM_017028768.1	1714	Missense Mutation	AAG,GAG	K433E	XP_016884257.1
XM_017028769.1	1714	Missense Mutation	AAG,GAG	K439E	XP_016884258.1

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