Product Details

SNP ID

rs138440339

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:109690472 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGCAGATCACTTTTGTAGATTTT[C/G]TCGTCTATGATGTCCTTGACCTCCA

Phenotype

MIM: 138350 MIM: 138380

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GSTM1 PubMed Links

Additional Information

The GSTM1 gene exhibits copy number variation. Individuals may carry GSTM1 deletion alleles. GSTM1 SNP genotyping assays run samples having no GSTM1 genes will not amplify, and samples having 1 gene copy will cluster with one of the homozygous clusters. For accurate GSTM1 genotype analysis, copy number analysis must be done. For more information, refer to the PGx Experiments User Guide (Pub. # MAN0009612) Chapter 2 Copy Number Variation section.

Gene Details

Gene

GSTM1

Gene Name

glutathione S-transferase mu 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000561.3		Intron			NP_000552.2
NM_146421.2		Intron			NP_666533.1
XM_005270782.4		Intron			XP_005270839.1

Gene

GSTM2

Gene Name

glutathione S-transferase mu 2 (muscle)

There are no transcripts associated with this gene.

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