Product Details

SNP ID
rs201379980
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:26582889 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGAGAAGGACAGCATGTTGTCAT[C/T]GTCCAGATCCGACTCACTCAGGACC
Phenotype
MIM: 610646
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C2orf70 PubMed Links

Gene Details

Gene
C2orf70
Gene Name
chromosome 2 open reading frame 70
There are no transcripts associated with this gene.

Gene
CIB4
Gene Name
calcium and integrin binding family member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001029881.2 517 Missense Mutation AAT,GAT N155D NP_001025052.1
XM_011532514.2 517 Missense Mutation AAT,GAT N171D XP_011530816.1
XM_011532517.2 517 Missense Mutation AAT,GAT N157D XP_011530819.1
XM_017003329.1 517 Missense Mutation AAT,GAT N132D XP_016858818.1
XM_017003330.1 517 Missense Mutation AAT,GAT N110D XP_016858819.1
XM_017003331.1 517 Intron XP_016858820.1

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