Product Details

SNP ID

rs6058147

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:34963652 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGTCATATCTACGAAACCATTGC[C/T]TAATTCGAAGGTCACAAAGATTTAC

Phenotype

MIM: 601002 MIM: 609928

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GSS PubMed Links

Additional Information

For this assay, SNP(s) [rs80170004] are located under a probe 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

GSS

Gene Name

glutathione synthetase

There are no transcripts associated with this gene.

Gene

MYH7B

Gene Name

myosin heavy chain 7B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020884.4		Intron			NP_065935.3
XM_006723840.3		Intron			XP_006723903.1
XM_011528941.2		Intron			XP_011527243.1
XM_011528947.2		Intron			XP_011527249.1
XM_011528948.2		Intron			XP_011527250.1
XM_017027986.1		Intron			XP_016883475.1
XM_017027987.1		Intron			XP_016883476.1

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