Product Details

SNP ID
rs199732016
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:65512784 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCAGGGATGGCCATCAGAAGAG[C/G]TGCAGGCCAGTTTTGAGCCCATGCA
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 2218 Missense Mutation CAC,CAG H715Q NP_001164120.1
NM_001170650.1 2218 Missense Mutation CAC,CAG H673Q NP_001164121.1
NM_031206.4 2218 Missense Mutation CAC,CAG H732Q NP_112483.1
XM_005262301.1 2218 Missense Mutation CAC,CAG H731Q XP_005262358.1
XM_005262304.1 2218 Intron XP_005262361.1
XM_005262305.3 2218 Intron XP_005262362.1
XM_005262306.3 2218 Intron XP_005262363.1
XM_011531045.1 2218 Missense Mutation CAC,CAG H690Q XP_011529347.1
XM_011531046.1 2218 Intron XP_011529348.1
XM_017029877.1 2218 Missense Mutation CAC,CAG H714Q XP_016885366.1
XM_017029878.1 2218 Intron XP_016885367.1
XM_017029879.1 2218 Missense Mutation CAC,CAG H430Q XP_016885368.1
XM_017029880.1 2218 Missense Mutation CAC,CAG H413Q 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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