Product Details

SNP ID

rs141314271

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:37569097 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAACCAGGTCATCCCCAGAAAAC[C/T]GAGGCACCACGTTGATTTTACCAAA

Phenotype

MIM: 602135 MIM: 609365

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNALI1 PubMed Links

Gene Details

Gene

DNALI1

Gene Name

dynein axonemal light intermediate chain 1

There are no transcripts associated with this gene.

Gene

GNL2

Gene Name

G protein nucleolar 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323623.1	1785	Missense Mutation	CAG,CGG	Q609R	NP_001310552.1
NM_001323624.1	1785	Missense Mutation	CAG,CGG	Q358R	NP_001310553.1
NM_013285.2	1785	Missense Mutation	CAG,CGG	Q541R	NP_037417.1

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