Product Details

SNP ID

rs150829495

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:38298287 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACACAAGACAGCTATAGAGTTTA[G/T]GCCAATGAAGCCAGTCAGTCCTGAG

Phenotype

MIM: 609368

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ATL2 PubMed Links

Gene Details

Gene

ATL2

Gene Name

atlastin GTPase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308076.1	1929	Missense Mutation	ATA,CTA	I479L	NP_001295005.1
XM_011533017.1	1929	Missense Mutation	ATA,CTA	I497L	XP_011531319.1
XM_011533018.2	1929	Missense Mutation	ATA,CTA	I492L	XP_011531320.1
XM_011533019.2	1929	Missense Mutation	ATA,CTA	I479L	XP_011531321.1
XM_011533020.1	1929	Missense Mutation	ATA,CTA	I443L	XP_011531322.1
XM_011533022.2	1929	Missense Mutation	ATA,CTA	I326L	XP_011531324.1
XM_011533023.2	1929	Missense Mutation	ATA,CTA	I270L	XP_011531325.1
XM_017004686.1	1929	Missense Mutation	ATA,CTA	I443L	XP_016860175.1
XM_017004687.1	1929	Missense Mutation	ATA,CTA	I443L	XP_016860176.1
XM_017004688.1	1929	Missense Mutation	ATA,CTA	I270L	XP_016860177.1

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