Product Details

SNP ID

rs114992521

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:50639134 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATACCAAGCATTATAGACTTTTGT[A/G]AGCAGACACAGGAACATAACTTTAC

Phenotype

MIM: 606439 MIM: 607203

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATL1 PubMed Links

Gene Details

Gene

ATL1

Gene Name

atlastin GTPase 1

There are no transcripts associated with this gene.

Gene

SAV1

Gene Name

salvador family WW domain containing protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021818.3		Intron			NP_068590.1
XM_011537057.2		Intron			XP_011535359.1
XM_017021568.1		Intron			XP_016877057.1

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