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AGTATGTCTCAGGAAGGTGCGGTCC[C/T]AGCTAGCGCGGTTCCCCTGGAAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
|
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Phenotype: |
MIM: 615255 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C1orf112 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
C1orf112 - chromosome 1 open reading frame 112 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320047.1 | 121 | Intron | NP_001306976.1 | |||
NM_001320048.1 | 121 | UTR 5 | NP_001306977.1 | |||
NM_001320050.1 | 121 | Missense Mutation | CCA,CTA | P,L 8 | NP_001306979.1 | |
NM_001320051.1 | 121 | Intron | NP_001306980.1 | |||
NM_018186.3 | 121 | Intron | NP_060656.2 | |||
XM_005245317.4 | 121 | Missense Mutation | CCA,CTA | P,L 8 | XP_005245374.1 | |
XM_011509735.2 | 121 | Intron | XP_011508037.1 | |||
XM_017001722.1 | 121 | Missense Mutation | CCA,CTA | P,L 8 | XP_016857211.1 | |
XM_017001723.1 | 121 | Missense Mutation | CCA,CTA | P,L 8 | XP_016857212.1 | |
XM_017001724.1 | 121 | Intron | XP_016857213.1 | |||
XM_017001725.1 | 121 | Intron | XP_016857214.1 |
METTL18 - methyltransferase like 18 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320199.1 | 121 | Intron | NP_001307128.1 | |||
NM_001320201.1 | 121 | Intron | NP_001307130.1 | |||
NM_033418.3 | 121 | Intron | NP_219486.1 | |||
XM_006711627.3 | 121 | Intron | XP_006711690.1 |