Product Details

SNP ID

rs191813214

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:37568974 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCACATTTTCCTCCTCAGGCTCC[A/G]AGGAAGACTCTTCCGCATCATCTCT

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

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	1908	Missense Mutation	TCG,TTG	S650L	NP_001310552.1
NM_001323624.1	1908	Missense Mutation	TCG,TTG	S399L	NP_001310553.1
NM_013285.2	1908	Missense Mutation	TCG,TTG	S582L	NP_037417.1

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