Product Details

SNP ID

rs16891281

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:33527202 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCTTTTGGGCTTAGAGTTCTTTTG[A/G]CTTTTGGAGCAACCGTTGCCTTCTT

Phenotype

MIM: 606184

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ADAMTS12 PubMed Links

Gene Details

Gene

ADAMTS12

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324511.1	5206	Intron			NP_001311440.1
NM_001324512.1	5206	Missense Mutation	CCA,TCA	P1506S	NP_001311441.1
NM_030955.3	5206	Missense Mutation	CCA,TCA	P1591S	NP_112217.2
XM_017009905.1	5206	Missense Mutation	CCA,TCA	P1628S	XP_016865394.1
XM_017009906.1	5206	Missense Mutation	CCA,TCA	P1464S	XP_016865395.1
XM_017009907.1	5206	Missense Mutation	CCA,TCA	P1109S	XP_016865396.1
XM_017009908.1	5206	Missense Mutation	CCA,TCA	P990S	XP_016865397.1
XM_017009909.1	5206	Missense Mutation	CCA,TCA	P986S	XP_016865398.1

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