SNPJam Report for AFG3L2

Showing coding SNPs for AFG3L2 (Gene ID: 10939)

Show all SNPs for this gene at dbSNP

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This SNPJam view is a snapshot of the information available at dbSNP and HapMap. It has been reformated to include the information most relevant to drug and metabolomics research.

Please note that population frequency data is updated on a nightly basis and may not be present if this gene was recently annotated.

Show all non-coding SNPs

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RS ID: 117182113 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
18 12329644

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron XM_002344142 Link_out Not Applicable Not Applicable Not Applicable
missense NM_006796 Link_out NP_006787 Link_out 1 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCTGGGCCAGTGGCTGGCTAAAATCAGCGCAGCATTCCCATTCTTCTGAAAGCCACAGCTGAAATAATGCACCAGCTGAAACCACA
GTGGACAGACTGAGATGGCCTCCCTCTGGGCCTCTAGTTGGCAACTTTCTCACCCGGGGGCTCCTCTTTCTCCTTTTCCCGCTCCTTGTT
CCAGTCCTTAAGGCCTTCTGGAA A/G TGAGGTGTCCTCATCCAAGCTGCCAGTGCCTTCCACAAATTCTTCATAGGTAGATTTTTCCG
CAAATGGTCTGGGGCCCAAAAGTTCAACCATATCATTCTTATCTAATACTTCTTTTTCTAACAACAGAAGAGCAACCTGAAATATGAACA
ATTTTCATTAAATACAGTTACTCAGCAAAGTCTATTCAGAAATATTAA-3'

[Top]

RS ID: 113810742 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
18 12377068

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_006796 Link_out NP_006787 Link_out 2 C [Cys] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAGAGACAGCGCAGGGCGCCCAGGCCCTCGGCAGGGACGGCCCGCGTGCGGCCGGAGGGCGGGGGCCAGTGACCTTGACGTCCGCT
CTCCCGAGCCGGAAGTGGGCCCGAGGCAGGGTGGAGGGCGCCGGGCGCCCAGGTAGGACTCACCGTCCGGAGGCAGGGCTGCTCGCCCGG
GCCCACGCCGCCAGGCACGAGGAGCTGCTGTAGGCCGCGGGGCCAGCAGCCGCCCCGGCCCCACAGCCGCAAA C/G AGCGGTGCGCCA
TGGCCGCCGCCGTGGCCCTCTCGGCCCGGGACGCTGCGCAGGCGCGGGCAGGCGACGACTGGCGGCCTCGGGAAGCGGGCTCGGCTCGGG
GAAAGGCCGCCAGGCAGCGAAGCGCGCCGGCGGCTCACGGAGGAGCCCAAGCTCTCAACGCGGCGTCTCCTGCCGCCAGCCCCGCCCCGG
CGCGCTGACGTCGGCGTCTCCTCTCCGAGGCCCGCCGCGACCTCCGCCAGTGCAGAAG-3'

[Top]

RS ID: 113619982 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
18 12356693

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_006796 Link_out NP_006787 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCTAGCTGGTGCGAGGGAAGGTGGGGTGGAAGTCACAGGCCTTGCTGAAGTCTTAGGCCTGGAGGAGAGCTCAGGCCAGGGACTGG
TGAGAGGTCACTCTAGCACTCTAGGGGGAAGGGCCATCTCTAGCAAGTGCCTCCATCTGTGGTGAAGTGGTGGGTGCAAGGAAGCTGTAC
CATCCGAACAGAATGAGACTCAC C/T CTAGCAGGGCCCACACCAACGAACATCTCCAAAAACTCAGATCCACTAACGGTGATGAAGGG
GACATTGGCTTCTCCGGCTGTGGCCTTAGCTAGCAGCGTCTTCCCAGTGCCTGGAGGACCAGTGAGAATGGCACCCTTCAGATATGAAAA
AAGAAATTACATTTAATGAGAATTCCAGAAAAGTAAATTGTGTATCCA-3'

[Top]

RS ID: 112234987 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
18 12360047

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_006796 Link_out NP_006787 Link_out 1 Y [Tyr] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCTGCACCCAGGGACAGAACACAGTGAACCACAGGCAGCACAGTCAACAGTCTACAAAATATTATATTTGAGATTACCCATCACT
TTCAGCAATGTAGACAACAGGCACCCGATTTTCTCCTTCTATGCCCAATTCCTGCTGTAAAGTTTCCAGATTCCGTTCAAAGGTGTCCAC
ACTGCCAATATTAAACCAAACGT A/G TTGCTATAAAAACAAAAAAACAAATATCCTAAGAATGTAGTGAAACTAAAAGGTTCAATTCA
CTAAACGGTTCAACTTTTTAAGAATTTTCCAGAAATACTGAAAATTTATAAATTAAAGAATAAACAATAATAAAAGACTGGCTTTAATAA
TGGTGGTGATTAAATGTCACTCATTGAGAACACTTGGCAATTCTTGGC-3'

[Top]

RS ID: 111584654 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
18 12340212

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_006796 Link_out NP_006787 Link_out 3 S [Ser] / S [Ser]
intron XM_002344142 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGTCTCAAAAAAATAAAGTTTCTCTTCATAAGTTTTAATTGCTTTACTTCTTTTAAGAGATAATCCTTGCCTAAAAAGCCTAAAAC
AGTGAAGCACAACTATATTGTTTCAGAGCCATTCATAGAATGTCAATTTCTCGTGCAAATATGAATACATGAGGAGGAAATGCACTCTTT
CATATACTCACTTGGGCATATGC A/G CTCTGAGTTACTTTTCTCAAGTCATCTTGAGCACCAGTTGTAATTCTTCCAAAGAAGATTTC
TTCAGAGACTCGACCACCTAAAGTCATACACATCCTATCCAAGAGCTGCTCTTTGGTATAGAGGTATTGTTCTTTTGGTAAATACTGAGC
ATAACCTAGTCCTTTGCCACGTGGGATGATGGATACCTGGTAAGTAGA-3'

[Top]

RS ID: 77620459 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
18 12358754

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_006796 Link_out NP_006787 Link_out 2 E [Glu] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGAAAGAGGAAGGACAGAAAAACAGCTATCTATAATAAGTAATCAAACTTCACAGAATTATAACTTCAGAGATCAAGAAACATTTC
AAAAAGTTAATCTTAAATTTCATTTTACCTTTGGGATTTTTGCTCCTAGGTCTTGATACTGCTTTGGGTTTTTCAAGAAATTCACAAATT
CCATGATCTCTAGCTTGGCCTCC C/T CACAGCCAGCCACATCTTTGAACTTCACATCAATTTCATCCTTTAAGACCTTGGCAGTGGTT
TCTCCGACACTGAAGAGTCCGCCCATCCCTCGGCCTGTCCGGCCAATGCCAGCAGGCCCTCTTCTGATGGTGTAGAGCAAGAAGGCGATG
ATGAGCACCGTAGGCAGCATGCTCAGCAGAAAAGAGCTGGGGACACAC-3'

[Top]

RS ID: 56213968 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
18 12344152

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_006796 Link_out NP_006787 Link_out 3 E [Glu] / E [Glu]
near-gene-5 XM_002344142 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCATGCACTGGCTGCCTAGTGCAGCTACCCTGCTTCACCTTTAAAAGCGGGTCTGCGTG C/T TCCAGATACCAGCCGGCAACCGC
ATGGCCTGCTTCGTGGTATGCCACAGTC-3'

[Top]

RS ID: 11553521 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
18 12348285

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_006796 Link_out NP_006787 Link_out 3 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TATCATGAGTCAAAACAGAATTATATTTACACAAAACCTTTATTCATTGTACTGCTGATTTAAAAATTAACTATGGATTTGGCTGTC
CATATTGTGTGACTGATCAGTTTGGGCGTATTTCGGTGGGTAAGCTGTTCTGTGTTCATTTTTTAGGTGCTGATGTTGCTAATGTCTGTA
ATGAAGCTGCGTTGATTGCTGCAAGGCATCTGTCAGATTCCATAAATCAGAAACACTTTGAACAGGCAATTGA A/G CGAGTGATTGGT
GGTAAGGAAACTGAACATAACTCAAGTGGAAAGGCTGATAAAATGAATTTGAGGCCAGGGATTTCTCTGTTTGGGCAAGAACTAGAAGCA
AAGAAAGTGTATCCACTCAGCCCTGGGGCCCACCACATTTGTGCTCTCTTGGTGTCATGGCCCCTCCCATGCCTCTCCTCCCTCTCCTCC
TTCTTCCTGCCACCGTCCCCTGCCACCTGCCCTCTGCATGGAGGTCCATGGTGCTGGG-3'

[Top]

RS ID: 11080572 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
18 12351342

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_006796 Link_out NP_006787 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-caggggcggtggttcacgcctgtaatcccagcactttgggaggcccaggcgggtggatcacctgaggttaggtgttcgagaccagcc
tgaccaacatggagaaaccctatctctactaaaaatacaaaaattagccaggtgtggtggggcatgcctgtaatcccagctactcgggag
gctgaggcaggagaattgcttgaacctgggaagcggaggttgcagtgagctgagatcacgccattgcactcctgcctggacaacaggagt
gaaactccgtctcaaaaaaaaaaaaaacaaaaaaCACTAGATAATGAATAGAAAATGTGTTTACTGTAGCTATGAATTTGCAGTGCTCAT
ATGTTCCTGATGGTGCACTGTTGCTTTCTGCCTCTTGTCATTTAATAGTGTTTGCATTTTTGTTATCTTTCAGGTTTTAATACAACAACA
AATGTCGTCATTTTGGCCGGCACCAATCGACCAGATATCCTGGACCCCGCGCT A/G CTTAGGCCGGGGCGTTTCGACAGGCAGATCTT
TATTGGTGAGATGATGTTTGCTGGGGCAGGTCCAGTGCTCATGAGTGTAGGTGTGACTGTTTCAATATGATTTTCTTTTCCTTAAAAATG
ATTTCTAAAGGACCACCAGACATAAAAGGAAGAGCTTCTATTTTCAAAGTTCATCTCCGACCGCTAAAACTGGACAGT-3'