Product Details

SNP ID

rs143133196

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:38298205 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTCCAATTTCTCTGAACTCCCCA[A/G]AGTATTTAACATATGCCCAAGTACA

Phenotype

MIM: 609368

Polymorphism

A/G, Transition 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	2011	Missense Mutation	TCT,TTT	S506F	NP_001295005.1
XM_011533017.1	2011	Missense Mutation	TCT,TTT	S524F	XP_011531319.1
XM_011533018.2	2011	Missense Mutation	TCT,TTT	S519F	XP_011531320.1
XM_011533019.2	2011	Missense Mutation	TCT,TTT	S506F	XP_011531321.1
XM_011533020.1	2011	Missense Mutation	TCT,TTT	S470F	XP_011531322.1
XM_011533022.2	2011	Missense Mutation	TCT,TTT	S353F	XP_011531324.1
XM_011533023.2	2011	Missense Mutation	TCT,TTT	S297F	XP_011531325.1
XM_017004686.1	2011	Missense Mutation	TCT,TTT	S470F	XP_016860175.1
XM_017004687.1	2011	Missense Mutation	TCT,TTT	S470F	XP_016860176.1
XM_017004688.1	2011	Missense Mutation	TCT,TTT	S297F	XP_016860177.1

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