Product Details

SNP ID

rs183126428

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:49628128 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGACCTCTTCAAGAAACTCATTAA[C/T]ATTTTCTTCATTGACAAATAACCTT

Phenotype

MIM: 612517 MIM: 602616 MIM: 180469

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAAF2 PubMed Links

Gene Details

Gene

DNAAF2

Gene Name

dynein axonemal assembly factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083908.1	1972	Intron			NP_001077377.1
NM_018139.2	1972	Missense Mutation	ATT,GTT	I631V	NP_060609.2

Gene

MGAT2

Gene Name

mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase

There are no transcripts associated with this gene.

Gene

RPL36AL

Gene Name

ribosomal protein L36a like

There are no transcripts associated with this gene.

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