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SNP ID: rs142366489
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:74426353 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCAACCGAGCGAGCCCTAGGGGAGT[A/G]GTCTGGGGGGACAGCATCCAGGGAA
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	2318	Missense Mutation	CAC,TAC	H528Y	NP_001015055.1
NM_001015056.1	2318	Missense Mutation	CAC,TAC	H478Y	NP_001015056.1
NM_033046.2	2318	Missense Mutation	CAC,TAC	H515Y	NP_149035.1
XM_005264478.2	2318	Intron			XP_005264535.1
XM_005264479.4	2318	Intron			XP_005264536.1
XM_017004635.1	2318	Missense Mutation	CAC,TAC	H515Y	XP_016860124.1
XM_017004636.1	2318	UTR 3			XP_016860125.1
XM_017004637.1	2318	UTR 3			XP_016860126.1
XM_017004638.1	2318	Missense Mutation	CAC,TAC	H398Y	XP_016860127.1
XM_017004639.1	2318	Intron			XP_016860128.1
XM_017004640.1	2318	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	2318	Intron			NP_001307752.1
NM_001320824.1	2318	Intron			NP_001307753.1
NM_001320825.1	2318	Intron			NP_001307754.1
NM_032118.3	2318	Intron			NP_115494.1
XM_017005064.1	2318	Intron			XP_016860553.1

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