Product Details

SNP ID

rs62637569

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133536800 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGACACAGTGTCAACCGGGTCC[A/G]CGGTGAGTGGGGTGTTGTGGTCTGA

Phenotype

MIM: 612277

Polymorphism

A/G, Transition 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	303	Missense Mutation	ACG,GCG	T30A	NP_001138792.1
NM_014694.3	303	Missense Mutation	ACG,GCG	T30A	NP_055509.2
XM_005272237.3	303	Missense Mutation	ACG,GCG	T139A	XP_005272294.1
XM_005272238.3	303	Missense Mutation	CAC,CGC	H89R	XP_005272295.1
XM_005272239.2	303	Missense Mutation	ACG,GCG	T30A	XP_005272296.1
XM_011519241.2	303	Missense Mutation	ACG,GCG	T139A	XP_011517543.2
XM_011519242.2	303	Missense Mutation	CAC,CGC	H89R	XP_011517544.1

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