Product Details

SNP ID

rs681475

Assay Type

Validated

NCBI dbSNP Submissions

76

Location

Chr.1:70415034 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ATTGCTCCCTATGCTTTGAGCCACT[C/T]TTGTAGAGCCAAGATGTGAATGAAT

Phenotype

MIM: 607657

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CTH PubMed Links

Additional Information

For this assay, SNP(s) [rs115228206] 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

CTH

Gene Name

cystathionine gamma-lyase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190463.1		Intron			NP_001177392.1
NM_001902.5		Intron			NP_001893.2
NM_153742.4		Intron			NP_714964.2
XM_005270509.3		Intron			XP_005270566.1
XM_017000416.1		Intron			XP_016855905.1

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