Product Details

SNP ID
rs187740466
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:16975337 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTTGTTAATGACGTACACACGG[C/T]GGAGGCTGCGGGGACAGGGCACGGG
Phenotype
MIM: 615776 MIM: 156790
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CROCC PubMed Links

Gene Details

Gene
CROCC
Gene Name
ciliary rootlet coiled-coil, rootletin
There are no transcripts associated with this gene.

Gene
MFAP2
Gene Name
microfibrillar associated protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135247.1 491 Missense Mutation CAC,CGC H126R NP_001128719.1
NM_001135248.1 491 Missense Mutation CAC,CGC H126R NP_001128720.1
NM_002403.3 491 Missense Mutation CAC,CGC H127R NP_002394.1
NM_017459.2 491 Missense Mutation CAC,CGC H127R NP_059453.1
XM_011541476.2 491 Missense Mutation CAC,CGC H127R XP_011539778.1

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