SNPJam Report for ACVRL1

Showing coding SNPs for ACVRL1 (Gene ID: 94)

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

[Top]

RS ID: 77341011 Link_out

Alleles: A/G

Validation:

  • By frequency

Details:

Chromosome Reference Position
12 52307359

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001077401 Link_out NP_001070869 Link_out 3 S [Ser] / S [Ser]
coding-synonymous NM_000020 Link_out NP_000011 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTCCCCATCTTCTTGGCCCCTGCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGG
TGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCT
CCCTCAGCCACCCAACCTCCTTC A/G GAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGGGCCCCGTGCTGGCCTTGCTGGC
CCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAG
TCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATG-3'

[Top]

RS ID: 76038779 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 52307513

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001077401 Link_out NP_001070869 Link_out 1 L [Leu] / F [Phe]
missense NM_000020 Link_out NP_000011 Link_out 1 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGATGGCCAGCTGGCCCTGATCCTGG
GCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGC
ACAGCGAGCTGGGAGAGTCCAGT C/T TCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGGGGTATGGGCCTGGGGACCTGGG
ACACAGGGTGTAGGAGGGGCAGATAGGAACTGCAGAATCAGAGGGGTCACCCAGAGATTAGAGCCGGTGGGGAGCTGGGCGAGTGAGGAG
CTTGCAGTGACCCAGCAGGTCCCAGGTCGAGGATAGAGAAGGGGGCTG-3'

[Top]

RS ID: 61734313 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52309902

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001077401 Link_out NP_001070869 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_000020 Link_out NP_000011 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGC A/G CCCGAGGTGCTGGACGAGCAGATCCGCACGGA
CTGCTTTGAGTCCTACAA-3'

[Top]

RS ID: 61734312 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52312899

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001077401 Link_out NP_001070869 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_000020 Link_out NP_000011 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCC A/G GTGAGGCCTCTGCTGGGACTAGGATGGCGTGG
GGTGGTGGCTCATGGCTG-3'

[Top]

RS ID: 56379428 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52309229

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001077401 Link_out NP_001070869 Link_out 3 F [Phe] / F [Phe]
coding-synonymous NM_000020 Link_out NP_000011 Link_out 3 F [Phe] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACG
CTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAA
CCAGCCATTGCCCACCGCGACTT C/T AAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGTGAGCC
GGGCGGGGCAGGGGCGCGCCCTTCACAGGTGGGCGGAGCTTGTGCGCTCTCCTCTCCTTTGCCTGTGGGCGGTGACCATGATTAGCACTT
GAAAATTTAGAGGTGCATGTTGTTTCAGTTCTCCTCCGCAAGACCCCA-3'

[Top]

RS ID: 56301903 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52307398

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001077401 Link_out NP_001070869 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_000020 Link_out NP_000011 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCCTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGG
CCCGAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACA
GATGGCCAGCTGGCCCTGATCCT A/G GGCCCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCG
ACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTT
GGGGGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGA-3'

[Top]

RS ID: 56080682 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52307028

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001077401 Link_out NP_001070869 Link_out 3 C [Cys] / C [Cys]
coding-synonymous NM_000020 Link_out NP_000011 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTCAGCCTGGGGGAGCTGGGACCACAGTGGCTGAGCTTCCGGTGTGTCTTCCAGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTG
GTGACCTGCACGTGTGAGAGCCCACATTGCAAGGGGCCTACCTGCCGGGGGGCCTGGTGCACAGTAGTGCTGGTGCGGGAGGAGGGGAGG
CACCCCCAGGAACATCGGGGCTG C/T GGGAACTTGCACAGGGAGCTCTGCAGGGGGCGCCCCACCGAGTTCGTCAACCACTACTGCTG
CGACAGCCACCTCTGCAACCACAACGTGTCCCTGGTGCTGGAGGGTACGTCCAGCTGCCCTAGCACTCCCTCCCCATCTTCTTGGCCCCT
GCCCTCCCTTCCCTCCTTTCCTCTCATGCTCTGGCCAATAAAGGGGCT-3'

[Top]

RS ID: 55802125 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52309053

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001077401 Link_out NP_001070869 Link_out 1 L [Leu] / L [Leu]
coding-synonymous NM_000020 Link_out NP_000011 Link_out 1 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTCTCTGACCTAAGCCACATCAACCCCCACCCCCAGACCTAGCTTAGCAGTGACCCAGTCCATTCCCTCTCCCCCAACCCCACCCT
GACCCTGACGACTCCAGCCTCCCTTAGCCCCAGCCCCTTGGCTGAGTCACCCAACCTTTCTGCACACAGGCTTCATCGCCTCAGACATGA
CCTCCCGCAACTCGAGCACGCAG C/T TGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACG
CTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAGGGCAAA
CCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAG-3'

[Top]

RS ID: 55758365 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52307401

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001077401 Link_out NP_001070869 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_000020 Link_out NP_000011 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCTCATGCTCTGGCCAATAAAGGGGCTGGGGGCGGGGGAGCGGGTGGGCAGGACTCTGGGATCTAACTGGCAGAGTGGTCTGGCCC
GAGGTGGGGGGAGCTGACCTAGTGGAAGCTGAGCCTCAGTGTCCCCCTCCCTCAGCCACCCAACCTCCTTCGGAGCAGCCGGGAACAGAT
GGCCAGCTGGCCCTGATCCTGGG C/T CCCGTGCTGGCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACG
GAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAGCTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACAGCATGTTGGG
GGTATGGGCCTGGGGACCTGGGACACAGGGTGTAGGAGGGGCAGATAG-3'

[Top]

RS ID: 28936688 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52309267

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001077401 Link_out NP_001070869 Link_out 2 C [Cys] / Y [Tyr]
missense NM_000020 Link_out NP_000011 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCTCATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTG
CAGAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGT
ACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGT A/G TTGCATCGCCGA
CCTGGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACATGGCACC
CGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGAT
TGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCACCCTTCTATGAT-3'

[Top]

RS ID: 28936687 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52308229

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001077401 Link_out NP_001070869 Link_out 2 G [Gly] / D [Asp]
missense NM_000020 Link_out NP_000011 Link_out 2 G [Gly] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCTTGCTGGCCCTGGTGGCCCTGGGTGTCCTGGGCCTGTGGCATGTCCGACGGAGGCAGGAGAAGCAGCGTGGCCTGCACAGCGAG
CTGGGAGAGTCCAGTCTCATCCTGAAAGCATCTGAGCAGGGCGACACGATGTTGGGGGACCTCCTGGACAGTGACTGCACCACAGGGAGT
GGCTCAGGGCTCCCCTTCCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGGAGTGTGTGGGAAAAG A/G CCGCTATGGCGA
AGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGGGAGACTGAGAT
CTATAACACAGTATTGCTCAGACACGACAACATCCTAGGCTTCATCGCCTCAGACATGACCTCCCGCAACTCGAGCACGCAGCTGTGGCT
CATCACGCACTACCACGAGCACGGCTCCCTCTACGACTTTCTGCAGAGACAGACGCTG-3'

[Top]

RS ID: 28936401 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52309891

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001077401 Link_out NP_001070869 Link_out 1 R [Arg] / W [Trp]
missense NM_000020 Link_out NP_000011 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGACAGACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGG
TACACAGGGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCT
GGGCCTGGCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAG C/T GGTACATGGCAC
CCGAGGTGCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGA
TTGCCCGCCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACA
TGAAGAAGGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGC-3'

[Top]

RS ID: 28936399 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52309898

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001077401 Link_out NP_001070869 Link_out 2 M [Met] / R [Arg]
missense NM_000020 Link_out NP_000011 Link_out 2 M [Met] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACGCTGGAGCCCCATCTGGCTCTGAGGCTAGCTGTGTCCGCGGCATGCGGCCTGGCGCACCTGCACGTGGAGATCTTCGGTACACAG
GGCAAACCAGCCATTGCCCACCGCGACTTCAAGAGCCGCAATGTGCTGGTCAAGAGCAACCTGCAGTGTTGCATCGCCGACCTGGGCCTG
GCTGTGATGCACTCACAGGGCAGCGATTACCTGGACATCGGCAACAACCCGAGAGTGGGCACCAAGCGGTACA G/T GGCACCCGAGGT
GCTGGACGAGCAGATCCGCACGGACTGCTTTGAGTCCTACAAGTGGACTGACATCTGGGCCTTTGGCCTGGTGCTGTGGGAGATTGCCCG
CCGGACCATCGTGAATGGCATCGTGGAGGACTATAGACCACCCTTCTATGATGTGGTGCCCAATGACCCCAGCTTTGAGGACATGAAGAA
GGTGGTGTGTGTGGATCAGCAGACCCCCACCATCCCTAACCGGCTGGCTGCAGACCCG-3'

[Top]

RS ID: 1804509 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52306309

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001077401 Link_out NP_001070869 Link_out 3 L [Leu] / F [Phe]
missense NM_000020 Link_out NP_000011 Link_out 3 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCTTCTGATGCTGCTGATGGCCTT G/T GTGACCCAGGGAGACCCTGTGAAGC-3'

[Top]

RS ID: 1804508 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 52308331

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001077401 Link_out NP_001070869 Link_out 2 I [Ile] / N [Asn]
missense NM_000020 Link_out NP_000011 Link_out 2 I [Ile] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGTCCTGGTTCCGGGAGACTGAGA A/T CTATAACACAGTGTTGCTCAGACAC-3'

[Top]

RS ID: 1058563 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 52308344

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001077401 Link_out NP_001070869 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_000020 Link_out NP_000011 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGCAGCATCAAGATGGGGGGCTCTTCCAGGGCTCTGTGTGCCCAGTGTGTAACCCTCACCTTCCCCTCTGGCCATCAGGAAAAGGC
CGCTATGGCGAAGTGTGGCGGGGCTTGTGGCACGGTGAGAGTGTGGCCGTCAAGATCTTCTCCTCGAGGGATGAACAGTCCTGGTTCCGG
GAGACTGAGATCTATAACACAGT A/G TTGCTCAGACACGACAACATCCTAGGCAAGGGGAGAGGCCAGCTGTGCCAGGCCTGGGGCTT
TGCCCCCCTGCACTCAGGGCTCAAGTTTGCAGACCTCCAGACATTAACAGAACCCTGAAGGACTCTCAGCCCACCTGCAGCATCAACCTC
TTTTTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTA-3'