Product Details

SNP ID
rs146176082
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129613587 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCGGCCTTCTGGTTCACAATGAC[G/T]CTCTGTTGGACTGCAGGAAAGAGGG
Phenotype
MIM: 613560
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
C9orf50 PubMed Links

Gene Details

Gene
C9orf50
Gene Name
chromosome 9 open reading frame 50
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_199350.3 619 Missense Mutation AGA,AGC R297S NP_955382.3
XM_011518655.1 619 Missense Mutation AGA,AGC R297S XP_011516957.1
XM_011518656.1 619 Missense Mutation AGA,AGC R297S XP_011516958.1
XM_011518657.2 619 Missense Mutation AGA,AGC R202S XP_011516959.1
XM_011518658.2 619 Missense Mutation AGA,AGC R201S XP_011516960.1
XM_011518659.1 619 UTR 3 XP_011516961.1
XM_011518660.1 619 Intron XP_011516962.1
XM_011518661.2 619 Missense Mutation AGA,AGC R113S XP_011516963.1
XM_011518662.2 619 Missense Mutation AGA,AGC R112S XP_011516964.1
XM_011518663.1 619 UTR 3 XP_011516965.1
XM_017014708.1 619 UTR 3 XP_016870197.1
Gene
NTMT1
Gene Name
N-terminal Xaa-Pro-Lys N-methyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286796.1 619 Intron NP_001273725.1
NM_001286797.1 619 Intron NP_001273726.1
NM_001286798.1 619 Intron NP_001273727.1
NM_001286799.1 619 Intron NP_001273728.1
NM_001286800.1 619 Intron NP_001273729.1
NM_001286801.1 619 Intron NP_001273730.1
NM_001286802.1 619 Intron NP_001273731.1
NM_001286803.1 619 Intron NP_001273732.1
NM_014064.3 619 Intron NP_054783.2
XM_005251939.3 619 Intron XP_005251996.1
XM_017014642.1 619 Intron XP_016870131.1

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