Product Details

SNP ID
rs201859787
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:49174394 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCTTCCTGCACGGGAACAAGATC[C/T]ATGTCCTGGGTAAGGGCCTGGGGAA
Phenotype
MIM: 613169
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C3orf84 PubMed Links

Gene Details

Gene
C3orf84
Gene Name
chromosome 3 open reading frame 84
There are no transcripts associated with this gene.

Gene
CCDC71
Gene Name
coiled-coil domain containing 71
There are no transcripts associated with this gene.

Gene
KLHDC8B
Gene Name
kelch domain containing 8B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173546.2 1262 Missense Mutation CAT,TAT H178Y NP_775817.1
XM_005264938.2 1262 Missense Mutation CAT,TAT H178Y XP_005264995.1
XM_005264940.4 1262 Missense Mutation CAT,TAT H51Y XP_005264997.1
XM_006713015.2 1262 Missense Mutation CAT,TAT H188Y XP_006713078.1
XM_006713016.2 1262 Missense Mutation CAT,TAT H188Y XP_006713079.1

View Full Product Details