Product Details

SNP ID

rs200612795

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3669347 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGAGGCTTCTCAGGGTGGCTGC[A/T]GGGCTCATGAGAGTTCTCAGGGTCT

Phenotype

MIM: 607114

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ADAM33 PubMed Links

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	2421	Missense Mutation	AGC,TGC	S786C	NP_001269376.1
NM_025220.4	2421	Missense Mutation	AGC,TGC	S786C	NP_079496.1
NM_153202.3	2421	Missense Mutation	AGC,TGC	S760C	NP_694882.1
XM_005260843.1	2421	Missense Mutation	AGC,TGC	S799C	XP_005260900.1
XM_006723639.1	2421	Missense Mutation	AGC,TGC	S799C	XP_006723702.1
XM_006723640.1	2421	Missense Mutation	AGC,TGC	S796C	XP_006723703.1
XM_006723644.2	2421	Intron			XP_006723707.1
XM_011529366.1	2421	Missense Mutation	AGC,TGC	S798C	XP_011527668.1
XM_011529367.1	2421	Missense Mutation	AGC,TGC	S785C	XP_011527669.1
XM_011529368.1	2421	Missense Mutation	AGC,TGC	S773C	XP_011527670.1
XM_011529370.1	2421	Intron			XP_011527672.1
XM_011529371.1	2421	Intron			XP_011527673.1
XM_011529373.1	2421	Missense Mutation	AGC,TGC	S465C	XP_011527675.1
XM_017028080.1	2421	Intron			XP_016883569.1
XM_017028081.1	2421	Intron			XP_016883570.1
XM_017028082.1	2421	Intron			XP_016883571.1
XM_017028083.1	2421	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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