Product Details

SNP ID

rs78847720

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:129748344 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGCACAACACTGGCAAAACCTT[A/G]TCTACTCACAGGTAAGATCTAGGGG

Phenotype

MIM: 607513

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADAMTS19 PubMed Links

Gene Details

Gene

ADAMTS19

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 19

There are no transcripts associated with this gene.

Gene

KIAA1024L

Gene Name

KIAA1024 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257308.1	154	Missense Mutation	ATC,GTC	I52V	NP_001244237.1

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