Product Details

SNP ID
rs200579283
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:104986694 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTTTGAAGGCTTTCGGGAATCTT[C/G]AGCCAAGTCTGGACAATTCTCACAG
Phenotype
MIM: 608570
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
AHNAK2 PubMed Links

Gene Details

Gene
AHNAK2
Gene Name
AHNAK nucleoprotein 2
There are no transcripts associated with this gene.

Gene
C14orf79
Gene Name
chromosome 14 open reading frame 79
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_174891.3 416 Nonsense Mutation TCA,TGA S88* NP_777551.2
XM_005267317.3 416 Nonsense Mutation TCA,TGA S88* XP_005267374.1
XM_005267318.3 416 Nonsense Mutation TCA,TGA S88* XP_005267375.1

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