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ATGGAGTCTTCCAGTTCATCTAACT[C/T]TTATTTCTCCGTTGGCCCAACCAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
24 submissions
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Phenotype: |
MIM: 602744 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C1orf131 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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C1orf131 - chromosome 1 open reading frame 131 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300830.1 | 232 | Intron | NP_001287759.1 | |||
NM_152379.3 | 232 | Intron | NP_689592.2 |
GNPAT - glyceronephosphate O-acyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001316350.1 | 232 | Missense Mutation | TCT,TTT | S,F 9 | NP_001303279.1 | |
NM_014236.3 | 232 | Missense Mutation | TCT,TTT | S,F 9 | NP_055051.1 | |
XM_005273313.4 | 232 | Missense Mutation | TCT,TTT | S,F 9 | XP_005273370.1 | |
XM_011544303.2 | 232 | UTR 5 | XP_011542605.1 | |||
XM_011544304.2 | 232 | UTR 5 | XP_011542606.1 |