Product Details

SNP ID

rs140884427

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:49619083 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACACTTCTTACAGAAGGTTCTTC[A/G]GGTTTTAGGTACGTTGACCATCTTT

Phenotype

MIM: 612517 MIM: 609193 MIM: 602616 MIM: 180469

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DNAAF2 PubMed Links

Gene Details

Gene

DNAAF2

Gene Name

dynein axonemal assembly factor 2

There are no transcripts associated with this gene.

Gene

LRR1

Gene Name

leucine rich repeat protein 1

There are no transcripts associated with this gene.

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001.4		Intron			NP_000992.1

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