Product Details

SNP ID

rs199737899

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:37559363 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGACACGCAGCTATGGATCCAGCA[G/T]GTGTCCAGCACCCCTAGCACCAGGA

Phenotype

MIM: 602135 MIM: 609365 MIM: 608241

Polymorphism

G/T, Transversion 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	340	Missense Mutation	CAG,CAT	Q110H	NP_003453.2
XM_005271172.2	340	Intron			XP_005271229.1

Gene

GNL2

Gene Name

G protein nucleolar 2

There are no transcripts associated with this gene.

Gene

SNIP1

Gene Name

Smad nuclear interacting protein 1

There are no transcripts associated with this gene.

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