Product Details

SNP ID

rs6747070

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:9480601 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGTGTATGTATCTTCATGAAAAGAC[C/T]GGAAAGATATACATCCAAATGCCAA

Phenotype

MIM: 603639 MIM: 606029

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ADAM17 PubMed Links

Additional Information

For this assay, SNP(s) [rs79638552] 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

ADAM17

Gene Name

ADAM metallopeptidase domain 17

There are no transcripts associated with this gene.

Gene

CPSF3

Gene Name

cleavage and polyadenylation specific factor 3

There are no transcripts associated with this gene.

Gene

IAH1

Gene Name

isoamyl acetate-hydrolyzing esterase 1 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039613.2		Intron			NP_001034702.1
NM_001320858.1		Intron			NP_001307787.1
NM_001320859.1		Intron			NP_001307788.1
NM_001320860.1		Intron			NP_001307789.1
NM_001320863.1		Intron			NP_001307792.1
XM_017003878.1		Intron			XP_016859367.1

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