Product Details

SNP ID

rs200378599

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133536723 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTTGCTTCCTAGGATGGATGGCA[C/G]ATGGCAATGTTCCTGCTGGGCCTGG

Phenotype

MIM: 612277

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ADAMTSL2 PubMed Links

Gene Details

Gene

ADAMTSL2

Gene Name

ADAMTS like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145320.1	226	Missense Mutation	ACA,AGA	T4R	NP_001138792.1
NM_014694.3	226	Missense Mutation	ACA,AGA	T4R	NP_055509.2
XM_005272237.3	226	Missense Mutation	ACA,AGA	T113R	XP_005272294.1
XM_005272238.3	226	Missense Mutation	CAC,CAG	H63Q	XP_005272295.1
XM_005272239.2	226	Missense Mutation	ACA,AGA	T4R	XP_005272296.1
XM_011519241.2	226	Missense Mutation	ACA,AGA	T113R	XP_011517543.2
XM_011519242.2	226	Silent Mutation	CAC,CAG	H63Q	XP_011517544.1

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