Product Details

SNP ID

rs2280090

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3669558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCCTCACTCACCCAGGGGCCAGG[A/G]CTGTCCAGTGGCTGTGGGGCCCAAC

Phenotype

MIM: 607114

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

ADAM33 PubMed Links

Additional Information

For this assay, SNP(s) [rs111935655] 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

ADAM33

Gene Name

ADAM metallopeptidase domain 33

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282447.2	2385	Missense Mutation	CCC,TCC	P774S	NP_001269376.1
NM_025220.4	2385	Missense Mutation	CCC,TCC	P774S	NP_079496.1
NM_153202.3	2385	Missense Mutation	CCC,TCC	P748S	NP_694882.1
XM_005260843.1	2385	Missense Mutation	CCC,TCC	P787S	XP_005260900.1
XM_006723639.1	2385	Missense Mutation	CCC,TCC	P787S	XP_006723702.1
XM_006723640.1	2385	Missense Mutation	CCC,TCC	P784S	XP_006723703.1
XM_006723644.2	2385	Intron			XP_006723707.1
XM_011529366.1	2385	Missense Mutation	CCC,TCC	P786S	XP_011527668.1
XM_011529367.1	2385	Missense Mutation	CCC,TCC	P773S	XP_011527669.1
XM_011529368.1	2385	Missense Mutation	CCC,TCC	P761S	XP_011527670.1
XM_011529370.1	2385	Intron			XP_011527672.1
XM_011529371.1	2385	Intron			XP_011527673.1
XM_011529373.1	2385	Missense Mutation	CCC,TCC	P453S	XP_011527675.1
XM_017028080.1	2385	Intron			XP_016883569.1
XM_017028081.1	2385	Intron			XP_016883570.1
XM_017028082.1	2385	Intron			XP_016883571.1
XM_017028083.1	2385	Intron			XP_016883572.1

Gene

GFRA4

Gene Name

GDNF family receptor alpha 4

There are no transcripts associated with this gene.

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