Product Details

SNP ID

rs147089521

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:37566979 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGTAGCGCACACCAACTTTTTTC[A/G]GCCGTTGCTGTCGTACTGCTCGCCT

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	2235	Intron			NP_003453.2
XM_005271172.2	2235	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	2235	Missense Mutation	CCG,CTG	P759L	NP_001310552.1
NM_001323624.1	2235	Missense Mutation	CCG,CTG	P508L	NP_001310553.1
NM_013285.2	2235	Missense Mutation	CCG,CTG	P691L	NP_037417.1

View Full Product Details