Product Details

SNP ID
rs116216859
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:73256393 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGATCATGTACTTGTAGGCCTG[C/T]TCAGCTTCTAATTGCCGTCCAACCT
Phenotype
MIM: 611206 MIM: 609204
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CFAP70 PubMed Links

Gene Details

Gene
CFAP70
Gene Name
cilia and flagella associated protein 70
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145170.3 3345 Silent Mutation GAA,GAG E1087E NP_660153.3
XM_005269489.2 3345 Silent Mutation GAA,GAG E895E XP_005269546.1
XM_006717604.2 3345 Silent Mutation GAA,GAG E1087E XP_006717667.1
XM_006717605.2 3345 Silent Mutation GAA,GAG E1087E XP_006717668.1
XM_006717609.2 3345 Silent Mutation GAA,GAG E895E XP_006717672.1
XM_006717610.2 3345 Silent Mutation GAA,GAG E895E XP_006717673.1
XM_006717611.3 3345 Silent Mutation GAA,GAG E895E XP_006717674.1
XM_011539212.2 3345 Silent Mutation GAA,GAG E895E XP_011537514.1
XM_017015620.1 3345 Silent Mutation GAA,GAG E1109E XP_016871109.1
XM_017015621.1 3345 Silent Mutation GAA,GAG E1108E XP_016871110.1
XM_017015622.1 3345 Silent Mutation GAA,GAG E1108E XP_016871111.1
XM_017015623.1 3345 Silent Mutation GAA,GAG E1083E XP_016871112.1
XM_017015624.1 3345 Silent Mutation GAA,GAG E1082E XP_016871113.1
XM_017015625.1 3345 Silent Mutation GAA,GAG E1079E XP_016871114.1
XM_017015626.1 3345 Silent Mutation GAA,GAG E1045E XP_016871115.1
XM_017015627.1 3345 Silent Mutation GAA,GAG E1039E XP_016871116.1
XM_017015628.1 3345 Silent Mutation GAA,GAG E1017E XP_016871117.1
XM_017015629.1 3345 Silent Mutation GAA,GAG E974E XP_016871118.1
XM_017015630.1 3345 Silent Mutation GAA,GAG E895E XP_016871119.1
XM_017015631.1 3345 Silent Mutation GAA,GAG E895E XP_016871120.1
XM_017015632.1 3345 Silent Mutation GAA,GAG E894E XP_016871121.1
XM_017015633.1 3345 Intron XP_016871122.1
Gene
DNAJC9
Gene Name
DnaJ heat shock protein family (Hsp40) member C9
There are no transcripts associated with this gene.

Gene
DNAJC9-AS1
Gene Name
DNAJC9 antisense RNA 1
There are no transcripts associated with this gene.

Gene
MRPS16
Gene Name
mitochondrial ribosomal protein S16
There are no transcripts associated with this gene.

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