Product Details

SNP ID
rs148197648
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:74424887 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTCCCTTCAGGATTGTGTGGCT[A/G]ACATGGTGACGGCAGATGACTCAGG
Phenotype
MIM: 602288
Polymorphism
A/G, Transition 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_001015055.1 421 Intron NP_001015055.1
NM_001015056.1 421 Intron NP_001015056.1
NM_033046.2 421 Intron NP_149035.1
XM_005264478.2 421 Intron XP_005264535.1
XM_005264479.4 421 Intron XP_005264536.1
XM_017004635.1 421 Intron XP_016860124.1
XM_017004636.1 421 Intron XP_016860125.1
XM_017004637.1 421 Intron XP_016860126.1
XM_017004638.1 421 Intron XP_016860127.1
XM_017004639.1 421 Intron XP_016860128.1
XM_017004640.1 421 Intron 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_001320823.1 421 Missense Mutation AAC,GAC N198D NP_001307752.1
NM_001320824.1 421 Missense Mutation AAC,GAC N183D NP_001307753.1
NM_001320825.1 421 Missense Mutation AAC,GAC N131D NP_001307754.1
NM_032118.3 421 Missense Mutation AAC,GAC N183D NP_115494.1
XM_017005064.1 421 Missense Mutation AAC,GAC N131D XP_016860553.1

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