Product Details

SNP ID
rs143742726
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:65512844 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCCAGAGAAGGCCCTCGAAGTT[C/G]CTGCTGCTGCTGTTGCTGCAGTTGC
Phenotype
MIM: 300964 MIM: 300889
Polymorphism
C/G, Transversion 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 2158 Missense Mutation AGC,AGG S695R NP_001164120.1
NM_001170650.1 2158 Missense Mutation AGC,AGG S653R NP_001164121.1
NM_031206.4 2158 Missense Mutation AGC,AGG S712R NP_112483.1
XM_005262301.1 2158 Missense Mutation AGC,AGG S711R XP_005262358.1
XM_005262304.1 2158 Intron XP_005262361.1
XM_005262305.3 2158 Intron XP_005262362.1
XM_005262306.3 2158 Intron XP_005262363.1
XM_011531045.1 2158 Missense Mutation AGC,AGG S670R XP_011529347.1
XM_011531046.1 2158 Intron XP_011529348.1
XM_017029877.1 2158 Missense Mutation AGC,AGG S694R XP_016885366.1
XM_017029878.1 2158 Intron XP_016885367.1
XM_017029879.1 2158 Missense Mutation AGC,AGG S410R XP_016885368.1
XM_017029880.1 2158 Missense Mutation AGC,AGG S393R XP_016885369.1
Gene
ZC3H12B
Gene Name
zinc finger CCCH-type containing 12B
There are no transcripts associated with this gene.

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