Product Details

SNP ID
rs141423846
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:32879316 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGAGTGTGTCCTGGAGAAGTTCT[C/T]GGATTCTTCGGTTTTCCCTGAAGGT
Phenotype
MIM: 615470 MIM: 604144
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CEP89 PubMed Links

Gene Details

Gene
CEP89
Gene Name
centrosomal protein 89
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032816.4 2353 Missense Mutation NP_116205.3
XM_005259344.3 2353 Missense Mutation XP_005259401.1
XM_011527425.2 2353 Missense Mutation XP_011525727.1
XM_017027398.1 2353 Intron XP_016882887.1
Gene
SLC7A9
Gene Name
solute carrier family 7 member 9
There are no transcripts associated with this gene.

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