Product Details

SNP ID
rs75328009
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:28734002 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTAGGATTGTGCACCTGTGCCTG[C/T]GAAAGGCTGACCAGAAGCTGGTGAT
Phenotype
MIM: 609799 MIM: 602326
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NEK8 PubMed Links

Gene Details

Gene
NEK8
Gene Name
NIMA related kinase 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178170.2 271 Nonsense Mutation CGA,TGA R23* NP_835464.1
XM_011524638.2 271 Nonsense Mutation CGA,TGA R47* XP_011522940.1
XM_011524640.2 271 Nonsense Mutation CGA,TGA R47* XP_011522942.1
XM_017024499.1 271 Nonsense Mutation CGA,TGA R23* XP_016879988.1
XM_017024500.1 271 UTR 5 XP_016879989.1
XM_017024501.1 271 Nonsense Mutation CGA,TGA R47* XP_016879990.1
Gene
RPL23A
Gene Name
ribosomal protein L23a
There are no transcripts associated with this gene.

Gene
TLCD1
Gene Name
TLC domain containing 1
There are no transcripts associated with this gene.

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