Product Details

SNP ID
rs200862250
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:65518179 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATCATTTTCTTCCTCCTCCTCTA[C/T]CTGGTCTGGCAAGACCTCTTTCTCC
Phenotype
MIM: 300964
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LAS1L PubMed Links

Gene Details

Gene
LAS1L
Gene Name
LAS1 like, ribosome biogenesis factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001170649.1 1760 Missense Mutation ATA,GTA I562V NP_001164120.1
NM_001170650.1 1760 Missense Mutation ATA,GTA I520V NP_001164121.1
NM_031206.4 1760 Missense Mutation ATA,GTA I579V NP_112483.1
XM_005262301.1 1760 Missense Mutation ATA,GTA I579V XP_005262358.1
XM_005262304.1 1760 Intron XP_005262361.1
XM_005262305.3 1760 Intron XP_005262362.1
XM_005262306.3 1760 Intron XP_005262363.1
XM_011531045.1 1760 Missense Mutation ATA,GTA I537V XP_011529347.1
XM_011531046.1 1760 Intron XP_011529348.1
XM_017029877.1 1760 Missense Mutation ATA,GTA I562V XP_016885366.1
XM_017029878.1 1760 Intron XP_016885367.1
XM_017029879.1 1760 Missense Mutation ATA,GTA I277V XP_016885368.1
XM_017029880.1 1760 Missense Mutation ATA,GTA I260V XP_016885369.1

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