Product Details

SNP ID

rs7142457

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:49631144 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAAAAATTTTACATTTAGAGTAA[C/T]TGGCTTTGCTATTATTTGAAGATCC

Phenotype

MIM: 612517 MIM: 602616

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		Intron			NP_001077377.1
NM_018139.2		Intron			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.

View Full Product Details