Product Details

SNP ID
rs146224530
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:16922783 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGATTGTCACCCGCAACCTCTCC[C/T]AGCCTGAGAGCCCAGGTGCCACCCC
Phenotype
MIM: 615776
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CROCC PubMed Links

Gene Details

Gene
CROCC
Gene Name
ciliary rootlet coiled-coil, rootletin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014675.4 227 Nonsense Mutation CAG,TAG Q61* NP_055490.4
XM_006711058.3 227 Intron XP_006711121.1
XM_011542468.1 227 Nonsense Mutation CAG,TAG Q63* XP_011540770.1
XM_011542470.2 227 Nonsense Mutation CAG,TAG Q63* XP_011540772.1
XM_017002913.1 227 Nonsense Mutation CAG,TAG Q63* XP_016858402.1
XM_017002914.1 227 Nonsense Mutation CAG,TAG Q63* XP_016858403.1
XM_017002915.1 227 Nonsense Mutation CAG,TAG Q63* XP_016858404.1

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