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GGGGAACGTGGATGGGGTGGCAGCG[A/T]CTCCTACTGCTGCCTCGGCCTCCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
18 submissions
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Phenotype: |
MIM: 611647 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARV1 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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ARV1 - ARV1 homolog, fatty acid homeostasis modulator | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022786.1 | 93 | Missense Mutation | ACT,TCT | T,S 22 | NP_073623.1 | |
XM_017002106.1 | 93 | Missense Mutation | ACT,TCT | T,S 22 | XP_016857595.1 |
TTC13 - tetratricopeptide repeat domain 13 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001122835.2 | 93 | Intron | NP_001116307.2 | |||
NM_024525.4 | 93 | Intron | NP_078801.3 | |||
XM_005273260.1 | 93 | Intron | XP_005273317.1 | |||
XM_005273261.2 | 93 | Intron | XP_005273318.1 | |||
XM_005273262.1 | 93 | Intron | XP_005273319.1 | |||
XM_005273264.2 | 93 | Intron | XP_005273321.1 | |||
XM_006711814.2 | 93 | Intron | XP_006711877.1 | |||
XM_006711815.2 | 93 | Intron | XP_006711878.1 | |||
XM_011544275.2 | 93 | Intron | XP_011542577.1 | |||
XM_011544276.2 | 93 | Intron | XP_011542578.1 | |||
XM_017002321.1 | 93 | Intron | XP_016857810.1 | |||
XM_017002322.1 | 93 | Intron | XP_016857811.1 | |||
XM_017002323.1 | 93 | Intron | XP_016857812.1 | |||
XM_017002324.1 | 93 | Intron | XP_016857813.1 | |||
XM_017002325.1 | 93 | Intron | XP_016857814.1 | |||
XM_017002326.1 | 93 | Intron | XP_016857815.1 |