Product Details

SNP ID
rs146011668
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:37567707 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTAAGCGCCCTGGGAGCTTTATTT[A/G]AATGTTCCTGTTCCTCTTCCCTTTG
Phenotype
MIM: 602135 MIM: 609365
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DNALI1 PubMed Links

Gene Details

Gene
DNALI1
Gene Name
dynein axonemal light intermediate chain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003462.3 2172 Intron NP_003453.2
XM_005271172.2 2172 Intron XP_005271229.1
Gene
GNL2
Gene Name
G protein nucleolar 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323623.1 2172 Missense Mutation TCA,TTA S738L NP_001310552.1
NM_001323624.1 2172 Missense Mutation TCA,TTA S487L NP_001310553.1
NM_013285.2 2172 Missense Mutation TCA,TTA S670L NP_037417.1

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