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SNP ID: rs145359287
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:74422238 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTCAGTGTGCTGCAGCTGCCGGCT[C/T]GCAACCTCACGTATTTTGGCGTGGT
Phenotype: MIM: 602288
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: C2orf81 PubMed Links

Gene Details

Gene: C2orf81
Gene Name: chromosome 2 open reading frame 81

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145054.1	158	Intron			NP_001138526.1
NM_001316764.1	158	Intron			NP_001303693.1
NM_001316765.1	158	Intron			NP_001303694.1
NM_001316766.1	158	Intron			NP_001303695.1

Gene: RTKN
Gene Name: rhotekin

There are no transcripts associated with this gene.

Gene: WDR54
Gene Name: WD repeat domain 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320823.1	158	Missense Mutation	CGC,TGC	R44C	NP_001307752.1
NM_001320824.1	158	Missense Mutation	CGC,TGC	R29C	NP_001307753.1
NM_001320825.1	158	Intron			NP_001307754.1
NM_032118.3	158	Missense Mutation	CGC,TGC	R29C	NP_115494.1
XM_017005064.1	158	Intron			XP_016860553.1

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