Product Details

SNP ID
rs138402576
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:74426560 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTCTGTCACCGCTGCGATGTCAT[A/C]CAGCGGCTCAATAGCTGTGGCACCA
Phenotype
MIM: 602288
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C2orf81 PubMed Links

Gene Details

Gene
C2orf81
Gene Name
chromosome 2 open reading frame 81
There are no transcripts associated with this gene.

Gene
RTKN
Gene Name
rhotekin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001015055.1 1877 Missense Mutation GAT,TAT D459Y NP_001015055.1
NM_001015056.1 1877 Missense Mutation GAT,TAT D409Y NP_001015056.1
NM_033046.2 1877 Missense Mutation GAT,TAT D446Y NP_149035.1
XM_005264478.2 1877 UTR 3 XP_005264535.1
XM_005264479.4 1877 UTR 3 XP_005264536.1
XM_017004635.1 1877 Missense Mutation GAT,TAT D446Y XP_016860124.1
XM_017004636.1 1877 UTR 3 XP_016860125.1
XM_017004637.1 1877 UTR 3 XP_016860126.1
XM_017004638.1 1877 Missense Mutation GAT,TAT D329Y XP_016860127.1
XM_017004639.1 1877 UTR 3 XP_016860128.1
XM_017004640.1 1877 UTR 3 XP_016860129.1
Gene
WDR54
Gene Name
WD repeat domain 54
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320823.1 1877 Intron NP_001307752.1
NM_001320824.1 1877 Intron NP_001307753.1
NM_001320825.1 1877 Intron NP_001307754.1
NM_032118.3 1877 Intron NP_115494.1
XM_017005064.1 1877 Intron XP_016860553.1

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