Product Details

SNP ID

rs199804043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:130405645 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTGGCAGAGGCCTGGCCGGAGGG[C/G]TCCCTGCACTCTACAGTTCGCCTCT

Phenotype

MIM: 605175

Polymorphism

C/G, 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	3290	Missense Mutation	GAC,GAG	D861E	NP_008968.4
XM_017017145.1	3290	Missense Mutation	GAC,GAG	D845E	XP_016872634.1

Gene

LOC646383

Gene Name

uncharacterized LOC646383

There are no transcripts associated with this gene.

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