Product Details

SNP ID
rs3007030
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:49619845 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TTGATTGGCTATACATCATTCTTTT[C/T]ATGACAAATTCCAGGAACGCGGACA
Phenotype
MIM: 612517 MIM: 609193 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
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002408.3 Intron NP_002399.1
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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