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CTTGGAGAGGGTGTAGTCTGTGGGC[A/G]TGATGCTACCCTGGAAAGGAGAAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 139312 MIM: 611900 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GNAL 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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GNAL - G protein subunit alpha L | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142339.2 | 2306 | UTR 3 | NP_001135811.1 | |||
NM_001261443.1 | 2306 | UTR 3 | NP_001248372.1 | |||
NM_001261444.1 | 2306 | UTR 3 | NP_001248373.1 | |||
NM_182978.3 | 2306 | UTR 3 | NP_892023.1 | |||
XM_006722324.2 | 2306 | Intron | XP_006722387.1 |
MPPE1 - metallophosphoesterase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242904.1 | 2306 | Missense Mutation | ACG,ATG | T,M 277 | NP_001229833.1 | |
NM_001319154.1 | 2306 | Missense Mutation | ACG,ATG | T,M 277 | NP_001306083.1 | |
NM_023075.5 | 2306 | Missense Mutation | ACG,ATG | T,M 340 | NP_075563.3 | |
XM_006722340.3 | 2306 | Missense Mutation | ACG,ATG | T,M 341 | XP_006722403.1 | |
XM_006722341.3 | 2306 | Missense Mutation | ACG,ATG | T,M 341 | XP_006722404.1 | |
XM_006722342.3 | 2306 | Missense Mutation | ACG,ATG | T,M 341 | XP_006722405.1 | |
XM_006722343.3 | 2306 | Missense Mutation | ACG,ATG | T,M 341 | XP_006722406.1 | |
XM_006722345.3 | 2306 | Missense Mutation | ACG,ATG | T,M 341 | XP_006722408.1 | |
XM_006722346.2 | 2306 | Missense Mutation | ACG,ATG | T,M 340 | XP_006722409.1 | |
XM_006722347.3 | 2306 | Missense Mutation | ACG,ATG | T,M 318 | XP_006722410.1 | |
XM_006722348.2 | 2306 | Intron | XP_006722411.1 | |||
XM_011525731.2 | 2306 | Missense Mutation | ACG,ATG | T,M 341 | XP_011524033.1 | |
XM_011525732.1 | 2306 | UTR 3 | XP_011524034.1 | |||
XM_011525734.1 | 2306 | Missense Mutation | ACG,ATG | T,M 230 | XP_011524036.1 | |
XM_017025920.1 | 2306 | Missense Mutation | ACG,ATG | T,M 341 | XP_016881409.1 | |
XM_017025921.1 | 2306 | Missense Mutation | ACG,ATG | T,M 341 | XP_016881410.1 | |
XM_017025922.1 | 2306 | Missense Mutation | ACG,ATG | T,M 340 | XP_016881411.1 | |
XM_017025923.1 | 2306 | Missense Mutation | ACG,ATG | T,M 340 | XP_016881412.1 | |
XM_017025924.1 | 2306 | Missense Mutation | ACG,ATG | T,M 340 | XP_016881413.1 | |
XM_017025925.1 | 2306 | Missense Mutation | ACG,ATG | T,M 340 | XP_016881414.1 | |
XM_017025926.1 | 2306 | Missense Mutation | ACG,ATG | T,M 340 | XP_016881415.1 | |
XM_017025927.1 | 2306 | Missense Mutation | ACG,ATG | T,M 318 | XP_016881416.1 | |
XM_017025928.1 | 2306 | Missense Mutation | ACG,ATG | T,M 318 | XP_016881417.1 | |
XM_017025929.1 | 2306 | Missense Mutation | ACG,ATG | T,M 318 | XP_016881418.1 | |
XM_017025930.1 | 2306 | UTR 3 | XP_016881419.1 | |||
XM_017025931.1 | 2306 | Intron | XP_016881420.1 |