Product Details

SNP ID

rs34413931

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:73712996 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCGGGGTTGTTGGACTTAAGGATG[C/G]GAATAACATCAGCGGCGGGGCCTCT

Phenotype

MIM: 610062 MIM: 604010

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DNAL1 PubMed Links

Gene Details

Gene

DNAL1

Gene Name

dynein axonemal light chain 1

There are no transcripts associated with this gene.

Gene

ELMSAN1

Gene Name

ELM2 and Myb/SANT domain containing 1

There are no transcripts associated with this gene.

Gene

PNMA1

Gene Name

paraneoplastic Ma antigen 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006029.4	1430	Missense Mutation	CCC,CGC	P215R	NP_006020.4

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