Product Details

SNP ID

rs3758337

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:129835822 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAAGCATCCGCGTGGCGTCTCGCGT[C/T]TCGGGCGCTGACTTTTCTTTCCTCG

Phenotype

MIM: 615143

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C9orf78 PubMed Links

Gene Details

Gene

C9orf78

Gene Name

chromosome 9 open reading frame 78

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016520.2	336	Intron			NP_057604.1
XM_011518780.2	336	Intron			XP_011517082.1

Gene

USP20

Gene Name

ubiquitin specific peptidase 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008563.4	336	Intron			NP_001008563.2
NM_001110303.3	336	Intron			NP_001103773.2
NM_006676.7	336	Intron			NP_006667.3
XM_005251665.3	336	Intron			XP_005251722.1
XM_005251666.3	336	Intron			XP_005251723.1
XM_011518161.2	336	Intron			XP_011516463.1
XM_011518162.2	336	UTR 5			XP_011516464.1
XM_017014221.1	336	Intron			XP_016869710.1

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