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SNP ID: rs201140439
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:85608974 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGTTGGCTCTGGCGCTTTGCAATCT[C/T]CTCCTGGATACGCAACTTGAGGGCT
Phenotype: MIM: 616757 MIM: 611594
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: C2orf68 PubMed Links

Gene Details

Gene: C2orf68
Gene Name: chromosome 2 open reading frame 68

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013649.3	544	Missense Mutation	AAG,GAG	K158E	NP_001013671.2
XM_005264305.3	544	Intron			XP_005264362.1

Gene: TMEM150A
Gene Name: transmembrane protein 150A

There are no transcripts associated with this gene.

Gene: USP39
Gene Name: ubiquitin specific peptidase 39

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256725.1	544	Intron			NP_001243654.1
NM_001256726.1	544	Intron			NP_001243655.1
NM_001256727.1	544	Intron			NP_001243656.1
NM_001256728.1	544	Intron			NP_001243657.1
NM_006590.3	544	Intron			NP_006581.2
XM_006711922.1	544	Intron			XP_006711985.1
XM_006711923.2	544	Intron			XP_006711986.1
XM_011532487.1	544	Intron			XP_011530789.1
XM_011532488.1	544	Intron			XP_011530790.1
XM_017003182.1	544	Intron			XP_016858671.1

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