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GTCAGGGGAAGAACTGAGAGGCGCA[A/T]ACCCCGGCTGTGGCGGCTGCTGCTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 611298 | ||||||||||||||||||||
Literature Links: |
C1orf194 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
C1orf194 - chromosome 1 open reading frame 194 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001122961.1 | 286 | Intron | NP_001116433.1 | |||
XM_005270448.3 | 286 | Intron | XP_005270505.1 | |||
XM_006710342.3 | 286 | Intron | XP_006710405.1 | |||
XM_006710343.3 | 286 | Intron | XP_006710406.1 | |||
XM_011540647.2 | 286 | Intron | XP_011538949.1 | |||
XM_011540648.1 | 286 | Intron | XP_011538950.1 |
KIAA1324 - KIAA1324 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267048.1 | 286 | Missense Mutation | AAA,ATA | K,I 22 | NP_001253977.1 | |
NM_001284352.1 | 286 | UTR 5 | NP_001271281.1 | |||
NM_001284353.1 | 286 | Intron | NP_001271282.1 | |||
NM_020775.4 | 286 | Missense Mutation | AAA,ATA | K,I 22 | NP_065826.2 | |
XM_011541825.1 | 286 | Missense Mutation | AAA,ATA | K,I 22 | XP_011540127.1 | |
XM_011541826.2 | 286 | Missense Mutation | AAA,ATA | K,I 22 | XP_011540128.1 | |
XM_011541827.1 | 286 | Missense Mutation | AAA,ATA | K,I 22 | XP_011540129.1 | |
XM_017001883.1 | 286 | UTR 5 | XP_016857372.1 |