Product Details

SNP ID

rs147256643

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:70674837 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGAAGGAACTGCACTTGCGCCTG[C/T]GGCCCAATCGGAGGTTGGTAGTGCC

Phenotype

MIM: 607506

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADAMTS14 PubMed Links

Gene Details

Gene

ADAMTS14

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080722.4	649	Missense Mutation	CGG,TGG	R122W	NP_542453.2
NM_139155.3	649	Missense Mutation	CGG,TGG	R122W	NP_631894.2
XM_011539300.2	649	Missense Mutation	CGG,TGG	R122W	XP_011537602.1
XM_011539301.2	649	Intron			XP_011537603.1
XM_011539302.2	649	Intron			XP_011537604.1
XM_011539303.2	649	Missense Mutation	CGG,TGG	R122W	XP_011537605.1
XM_011539305.2	649	Missense Mutation	CGG,TGG	R122W	XP_011537607.1
XM_011539306.2	649	Missense Mutation	CGG,TGG	R122W	XP_011537608.1
XM_011539307.2	649	Missense Mutation	CGG,TGG	R122W	XP_011537609.1
XM_011539308.2	649	Missense Mutation	CGG,TGG	R122W	XP_011537610.1
XM_011539309.1	649	Intron			XP_011537611.1

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