Product Details

SNP ID

rs186130633

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:65524242 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGAGAACGGCTTTGGCACCAGGA[C/T]GTCATTCAAGTCCACGTTTTCTGGT

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	1139	Missense Mutation	ATC,GTC	I355V	NP_001164120.1
NM_001170650.1	1139	Missense Mutation	ATC,GTC	I313V	NP_001164121.1
NM_031206.4	1139	Missense Mutation	ATC,GTC	I372V	NP_112483.1
XM_005262301.1	1139	Missense Mutation	ATC,GTC	I372V	XP_005262358.1
XM_005262304.1	1139	Missense Mutation	ATC,GTC	I372V	XP_005262361.1
XM_005262305.3	1139	Missense Mutation	ATC,GTC	I372V	XP_005262362.1
XM_005262306.3	1139	Missense Mutation	ATC,GTC	I372V	XP_005262363.1
XM_011531045.1	1139	Missense Mutation	ATC,GTC	I330V	XP_011529347.1
XM_011531046.1	1139	Missense Mutation	ATC,GTC	I372V	XP_011529348.1
XM_017029877.1	1139	Missense Mutation	ATC,GTC	I355V	XP_016885366.1
XM_017029878.1	1139	Missense Mutation	ATC,GTC	I355V	XP_016885367.1
XM_017029879.1	1139	Missense Mutation	ATC,GTC	I70V	XP_016885368.1
XM_017029880.1	1139	Missense Mutation	ATC,GTC	I53V	XP_016885369.1

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