Product Details

SNP ID

rs146373315

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:3669302 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAATCCAGGTCCCTGCCTACCTT[G/T]GGGGTCAGGCGAGACTGCTGGCAGA

Phenotype

MIM: 607114

Polymorphism

G/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	2466	Missense Mutation	AAA,CAA	K801Q	NP_001269376.1
NM_025220.4	2466	Missense Mutation	AAA,CAA	K801Q	NP_079496.1
NM_153202.3	2466	Missense Mutation	AAA,CAA	K775Q	NP_694882.1
XM_005260843.1	2466	Missense Mutation	AAA,CAA	K814Q	XP_005260900.1
XM_006723639.1	2466	Missense Mutation	AAA,CAA	K814Q	XP_006723702.1
XM_006723640.1	2466	Missense Mutation	AAA,CAA	K811Q	XP_006723703.1
XM_006723644.2	2466	Intron			XP_006723707.1
XM_011529366.1	2466	Missense Mutation	AAA,CAA	K813Q	XP_011527668.1
XM_011529367.1	2466	Missense Mutation	AAA,CAA	K800Q	XP_011527669.1
XM_011529368.1	2466	Missense Mutation	AAA,CAA	K788Q	XP_011527670.1
XM_011529370.1	2466	Intron			XP_011527672.1
XM_011529371.1	2466	Intron			XP_011527673.1
XM_011529373.1	2466	Missense Mutation	AAA,CAA	K480Q	XP_011527675.1
XM_017028080.1	2466	Intron			XP_016883569.1
XM_017028081.1	2466	Intron			XP_016883570.1
XM_017028082.1	2466	Intron			XP_016883571.1
XM_017028083.1	2466	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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