Product Details

SNP ID

rs199760382

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:130406119 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTGGGATGGTGACAATGTCATT[G/T]TAGCCATAACTGTGATAGAAACAGA

Phenotype

MIM: 605175

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ADAMTS8 PubMed Links

Gene Details

Gene

ADAMTS8

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007037.5	2816	Nonsense Mutation	TAA,TAC	*703Y	NP_008968.4
XM_017017145.1	2816	Nonsense Mutation	TAA,TAC	*687Y	XP_016872634.1

Gene

LOC646383

Gene Name

uncharacterized LOC646383

There are no transcripts associated with this gene.

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