Product Details

SNP ID
rs200447439
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:55954308 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTCATAAACTCAAACTGTTGGAG[A/G]AAGAGAGCAAAGCTAAGAATGAAAG
Phenotype
MIM: 611423
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CEP135 PubMed Links

Gene Details

Gene
CEP135
Gene Name
centrosomal protein 135
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025009.4 665 Missense Mutation AAA,GAA K133E NP_079285.2
XM_005265788.3 665 UTR 5 XP_005265845.1
XM_006714055.2 665 Missense Mutation AAA,GAA K133E XP_006714118.1
XM_011534412.2 665 Intron XP_011532714.1

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