Product Details

SNP ID

rs190048822

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:64686704 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCACCCCGGGCGTCCCGAGGAGG[A/G]TGACAGTGAACAGTGGAGCGATAAA

Phenotype

MIM: 605421

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADAMTS9 PubMed Links

Gene Details

Gene

ADAMTS9

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318781.1	412	Missense Mutation	ACC,ATC	T127I	NP_001305710.1
NM_182920.1	412	Missense Mutation	ACC,ATC	T127I	NP_891550.1

Gene

ADAMTS9-AS2

Gene Name

ADAMTS9 antisense RNA 2

There are no transcripts associated with this gene.

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