Product Details

SNP ID

rs145897018

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:133536770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTTCCTGCTGGTTCTGGCAGTT[A/G]TAGCTGGGGACACAGTGTCAACCGG

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	273	Missense Mutation	ATA,GTA	I20V	NP_001138792.1
NM_014694.3	273	Missense Mutation	ATA,GTA	I20V	NP_055509.2
XM_005272237.3	273	Missense Mutation	ATA,GTA	I129V	XP_005272294.1
XM_005272238.3	273	Missense Mutation	TAT,TGT	Y79C	XP_005272295.1
XM_005272239.2	273	Missense Mutation	ATA,GTA	I20V	XP_005272296.1
XM_011519241.2	273	Missense Mutation	ATA,GTA	I129V	XP_011517543.2
XM_011519242.2	273	Missense Mutation	TAT,TGT	Y79C	XP_011517544.1

View Full Product Details