SNPJam Report for AKT1

Showing coding SNPs for AKT1 (Gene ID: 207)

Show all SNPs for this gene at dbSNP

This SNP viewer is in beta and your feedback is appreciated!

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: 72256887 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105241501

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_005163 Link_out NP_005154 Link_out 1 T [Thr] / Y [Tyr]
frameshift NM_001014431 Link_out NP_001014431 Link_out 1 T [Thr] / Y [Tyr]
frameshift NM_001014432 Link_out NP_001014432 Link_out 1 T [Thr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTGGGCACCTCCACAGCCTGACCCTCCAGGGCAGGCCTGTCTCACCAGCGGCGGAGTCCACGGTGTGTAAAGCCCTCACGTGCCCA
AGAAGACAGGACATCGTCCCCTAGAGACAGCCCCAGGAGTCGCTACCTGGCCCCAGCCCTTCAGCCCCATCTGGGCTCCCACTCACTGTG
AGGAAGGGGTGCCTGGAGTTCTGCAGGACGCGGTTCTCGGTGAGTGTGTGGGCCACCTCGTCCTGTAAAGCAGGGCTGGGTGAGCTGCCA
CCCCGCACCCTCATCTCCACCCTGCCCCACCGCCCCGGCCCCACCTTGGCCACGATGACTTCCTTCTTGAGGATCTTCATGGCGTAGTAG
CGGCCTGTGGCCTTCTCCTTCACCAGGATCACCTTGCCGAAAG -/A TGCCCTTGCCCAGCAGCTTCAGGTACTCAAACTCGTTCATGG
TCTATGGGCAGGCACCAGGGTCAGCAAGCGGCGCTGCCAACAGTGCCCAGCTGGTCGGCATGCGTGGGGTGGCATGAGGGGCCCCAGAGT
CGGAGGCAGAGCCAGGAGAGGCGTCCACTTCACACCTGGTGGCCTACTGGGCTCAGCGGGGAGTCCAGGCTTACAGGGAACACATGGCTG
CGGCCCCAGCTCAGAGCATGGGGTTCAGGGAAGGGTGGGGTAACATTGCCCAAGCCTGGCAGGGCTCAGCAACCCCAGTTTTCCTCTGAC
ATGGGGAAGAGGACCCACCTGGGAAGCAGCTGCGCCCTACATGGAAAACCGGCCTAGGTGGAGATGCCGTGGAGTGCTGAGTGTCTCC-3
'

[Top]

RS ID: 67887424 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105243073

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_005163 Link_out NP_005154 Link_out 3 Not Applicable
frameshift NM_001014431 Link_out NP_001014431 Link_out 3 Not Applicable
frameshift NM_001014432 Link_out NP_001014432 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGGGTTTCACCATGTTGGCAGGCTAGTCTCAAACTCCTGGTCTCAAGTGATCTGCGCACCTCGGCCTCCCAAAGTGCCGAGATTAT
AGACGTGAGCCACTGCACCCGGTCCCTAGCCAGTTTTTATCTCCAGCCTCAGTTTCCCCACCCAAACCCCACAGGCAGGACTGGGCCAGT
TTCCAAACTGGGCTCTGAGGAGGGCCTGGGAGCACTGGGGAGTGAGGATGGCTACAGGCAGAGGTGCCAGCACCCCGCCATCCCCGTGTC
CCTCCTAAGCGCTGGGGCTGCCCAAGTGCCTGGCCTGGCCGCCACAGCCCACGTACCGCTCCTCAGGAGTCTCCACATGGAAGGTGCGTT
CGATGACAGTGGTCCACTGCAGGCAGCGGATGATGAAGGTGTT -/G GGCCGGGGCCGCTCCGTCTTCATCAGCTGGCACTCTGCGGGC
AGGCAGAGCCTCTGTCTGCGTGCATCCCCCTGCCCCTCCCAGGGCCCTCACCACAGCCCCCGCTGCACCAGCCAGCTCCCCTTGCATACC
ACCCACCAGGTCCTGGGAAGCCCCATCTCTTCCTCTCTCCAAGCCTCAGTTTCTCGCCTCACAGAGTGGGGCTAGGACCCCTGTTCCAGC
TCAGACACTCTACTCCAGGCTGAGGCAGCCACACAGGGCATCTGGCCCGGCGTCAGGTCAAACCCCCACCATCGTCCACTCCTACAGTCC
TTCCTTCAGTCTCTGAGCCCCGCCGTGCGCCAGGCCTCAGAGGATGAGGGGTATGGAGATCCCACAGAGGGGCTGGCATGAGGGGGG-3'

[Top]

RS ID: 67335435 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105237112

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_005163 Link_out NP_005154 Link_out 3 A [Ala] / A [Ala]
frameshift NM_001014431 Link_out NP_001014431 Link_out 3 A [Ala] / A [Ala]
frameshift NM_001014432 Link_out NP_001014432 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAAGTGGGGCCTGCGCTCGCTGTCCACACACTCCATGCTGTCATCTGTGGGTGTAGACAGCTCAGACCCCGGTGCCCCACCTCCCT
GCCACCTCCACCCACCCACAGCTCCAGTAGGAAGCCAACCTCTTAAAGCACGGCCAGCACGCTGCCATACTGCCAGGAAACTGAGACAGG
GCCCCACAGATTGACACAGGGACCTGGGCCCTCAGAGCACTGCCTCCCACCCTGATCATTGGCACTCTCCAAAAGGAACCTTTTTAAATA
TTTAGATTTTAAAACATCTGAAGCCAAAAAAGCTGAACACTGCAGGCCTCTCTGAGTGTGGAGAGAAAAGGGAGTGGGCGGGGGCAGGCA
GTGGCCCCTCACCTTGGTCAGGTGGTGTGATGGTGATCATCTG -/G GGCCGTGAACTCCTCATCAAAATACCTGGTGTCAGTCTCCGA
CGTGACCTGGGGCTTGAAGGGTGGGCTGAGCTGCAGAGGTGGGCAGACGGGACAGTCATGAGCTTCGCTCCCCACTCCCAGCACACCCTC
AAGTGTGCTCAAGACCTTCAAAGCACCTGGATCTCCAAGGGGTCTCCAGGCAGGACTGATGTCAGAGAGCAGCAAGCCACCAGCCCCCCA
CAGAGGCAGCTCTGGGAGGGAGGGACATGAGGGGTGCAGGAGCACGGAGACAACCCTCAACAGCTGAGACGCAAAGCTGCCCTCACAGCA
GCCCCAGCAGGCGACAGGAGGTAGTGCAGCCCAGCTCTGAGAGACCCTCCCTGCTACCAGGAGGTGATAACTTTATTTTTCCTTTTTC-3
'

[Top]

RS ID: 67119047 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105240284

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_005163 Link_out NP_005154 Link_out 3 R [Arg] / R [Arg]
frameshift NM_001014431 Link_out NP_001014431 Link_out 3 R [Arg] / R [Arg]
frameshift NM_001014432 Link_out NP_001014432 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAACACACGCTCCCGGGACAGGTGGAAGAACAGCTGCGGGAGGCGCAACCTGAGGCACAGCCGTGGCTCGGGCCTCTGCCCCCATGG
CCTGCAGGGCTGGGGTTTCTCAGACCGGGTCTCGGCATTGCACAGGGAAGGGACCAGCCACCAGAGGGCACGGGGGCCTGGAAAGTCTCA
GAAGCCCTAACTCAGCAGGAACAAGTCACCCCACAGCAGGCAGCTGCCTGGGCAGGCATCACACCACCCACCCAGCAGGGAGCACCGTCT
GGTGCCATGGAGAGTAGCCGAGGCTCCGGGAAGGACCGGCCCCACCATGGGCGGCCCACAGGCCGCGAAGTCCATCCCCCGCAGCCCCAG
CCCCTACCTCGCCCCCGTTGGCGTACTCCATGACAAAGCAGAG -/G GCGGTCGTGGGTCTGGAAAGAGTACTTCAGGGCCTGCAAGGA
AGGGGAGCTGGAACTGCGGCCCCACAGGCAGGACGGCAGCCCCGCACCACGCTGCCCGACACCACGCTGCTTGATACCACGTCGCCTGAT
ACCACACCGCCCGTAGCCCCACACCACACTGCCCGACACCACGCTGCCTGATACCACACCGCCCGATACCACACTGCCCCACACCACACA
CCCCATCACACTGCCCCACACCATACACCCCCACATCACACTGCCCCCATGCCACGCTGCCCCACACCACACTGCCCCACACCACACTGC
CTCATGCCACGCCACCATCAGGCTGGGCCCCGGCAGCCCCTGAGGTGCCAAGGAGTGTTTGAAAGGTGAGCAAGGTGGCCTGGGCTCA-3
'

[Top]

RS ID: 61761191 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105241308

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 R [Arg] / R [Arg]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 R [Arg] / R [Arg]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCTGGTGCCTGCCCATAGACCATGAACGAGTTTGAGTACCTGAAGCTGCTGGGCAAGGGCACTTTCGGCAAGGTGATCCTGGTGAA
GGAGAAGGCCACAGGCCGCTACTACGCCATGAAGATCCTCAAGAAGGAAGTCATCGTGGCCAAGGTGGGGCCGGGGCGGTGGGGCAGGGT
GGAGATGAGGGTGCGGGGTGGCAGCTCACCCAGCCCTGCTTTACAGGACGAGGTGGCCCACACACTCACCGAGAACCG C/T GTCCTGC
AGAACTCCAGGCACCCCTTCCTCACAGTGAGTGGGAGCCCAGATGGGGCTGAAGGGCTGGGGCCAGGTAGCGACTCCTGGGGCTGTCTCT
AGGGGACGATGTCCTGTCTTCTTGGGCACGTGAGGGCTTTACACACCGTGGACTCCGCCGCTGGTGAGACAGGCCTGCCCTGGAGGGTCA
GGCTGTGGAGGTGCCCAGTGTGGGCTAGGGGCTGTGCTCGCTGCTCCCGTGTGCGGGCAGGTGGGTGG-3'

[Top]

RS ID: 56289559 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105239355

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 C [Cys] / C [Cys]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 C [Cys] / C [Cys]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGCAGCCTGGGGATGAGGGGATGGAGGTGTAGCCTGTAGCTGGGATGGGCGGCCCTCACCTCTGCTTGGGGTCCTTCTTGAGCAGC
CCTGAAAGCAAGGACTTGGCCTCGGGACCAAGCGTGCGCGGGAAGCGGATCTCCTCCATGAGGATGAGCTCAAAAAGCTTCTCATGGTCC
TGGTTGTAGAAGGGCAGGCGACC A/G CACATCATCTCGTACATGACCACGCCCAGCCCCCACCAGTCCACTGCACGGCCGTAGTCATT
GTCCTCCAGCACCTGCACGGGTGGCAGATGGGCAGGACTCGGCATCAAGGGGTGTCCGGGACACTGCCGGGGGAGGTGTGACGTGCTTGG
GGCACAGAGAGGACACAGCATTGCGTGTGCTCAGGACGTGGGGACGCA-3'

[Top]

RS ID: 56217512 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
14 105258972

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAGGGCACAGGCACTCACAGACCCTGGGGCTACTACCCCCATCTCTCCCTCCCCAGGCCCAGCCCTGGCAGCGGGTACTAACCTCG
TTTGTGCAGCCAACCCTCCTTCACAATAGCCAC A/G TCGCTCATGGTGCCCGAGGCTCCCGCGACGCTCACGCGCTCCTCTCAGGCTG
GCGCTCCCCGAGCCCAGCTGGCCTGGCCACAGCCTCTGGGAGAAGCAAAGGAAGCTGAATGTGAGGCC-3'

[Top]

RS ID: 55874341 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105239409

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 Y [Tyr] / Y [Tyr]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 Y [Tyr] / Y [Tyr]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATCTCCTCCATGAGGATGAGCTCAAAAAGCTTCTCATGGTCCTGGTTGTAGAAGGGCAGGCGACCGCACATCATCTCGTACATGAC
CACGCCCAGCCCCCACCAGTCCACTGCACGGCC A/G TAGTCATTGTCCTCCAGCACCTGCACGGGTGGCAGATGGGCAGGACTCGGCA
TCAAGGGGTGTCCGGGACACTGCCGGGGGAGGTGTGACGTGCTTGGGGCACAGAGAGGACACAGCATT-3'

[Top]

RS ID: 34670300 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
14 105241422

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCCTCCAGGGCAGGCCTGTCTCACCAGCGGCGGAGTCCACGGTGTGTAAAGCCCTCACGTGCCCAAGAAGACAGGACATCGTCCC
CTAGAGACAGCCCCAGGAGTCGCTACCTGGCCCCAGCCCTTCAGCCCCATCTGGGCTCCCACTCACTGTGAGGAAGGGGTGCCTGGAGTT
CTGCAGGACGCGGTTCTCGGTGAGTGTGTGGGCCACCTCGTCCTGTAAAGCAGGGCTGGGTGAGCTGCCACCCCGCACCCTCATCTCCAC
CCTGCCCCACCGCCCCGGCCCCACCTTGGCCAC A/G ATGACTTCCTTCTTGAGGATCTTCATGGCGTAGTAGCGGCCTGTGGCCTTCT
CCTTCACCAGGATCACCTTGCCGAAAGTGCCCTTGCCCAGCAGCTTCAGGTACTCAAACTCGTTCATGGTCTATGGGCAGGCACCAGGGT
CAGCAAGCGGCGCTGCCAACAGTGCCCAGCTGGTCGGCATGCGTGGGGTGGCATGAGGGGCCCCAGAGTCGGAGGCAGAGCCAGGAGAGG
CGTCCACTTCACACCTGGTGGCCTACTGGGCTCAGCGGGGAGTCCAGGCTTACAGGGAACACATGGCT-3'

[Top]

RS ID: 34409589 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105246551

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_005163 Link_out NP_005154 Link_out 1 Not Applicable
frameshift NM_001014431 Link_out NP_001014431 Link_out 1 Not Applicable
frameshift NM_001014432 Link_out NP_001014432 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGCCCAGCCAGCCTCGGGACTCGGCCCAGAGACCCCCACCCAGCCAGTGCTTGTTGCTTGCCAGCCCAGGACATGGAGGCTCCAG
GGGACCCCCATCGTGGGGCCTGGTGGGCAAAGAGGGCTCCAGCCAACCCCCCAAATCTGAATCCCGAGAGGCCAAGGGGATACTTACGCG
CCACAGAGAAGTTGTTGAGGGGAGCCTCACGTTGGTCCACATCCTGCGGCCGCTCCTTGTAGCCAATGAAGGTGCCATCATTCTTGAGGA
GGAAGTAGCGTGGCCGCCAGGTCTTGATGTACT -/C CCCTACAGACGTGCGGGTGGTGAGAGCCACGCACACTCTACCCGTCAGACCC
TCGCCAGGCAGCCAGGCAGGAACTGGGTGTGCCAGGACAGATGTGCCTGGGATGCCTGAGTCCCAGGGGGCAGGCGCGGTACGGGAGCTG
TTTCTTAGGGCCAGCGACAGAAACGGCCCTGGGTCAACGGGAAGGCAGACTCGCCCCACCACAGCGCCCCTCTCAGAAGAGCCACCCCGA
GCTGTGTCTGAAAACGGGCTGGGCCAGCTGGACGCAGGGGATGGAGTACCATGGACAGGAGGCTGGGA-3'

[Top]

RS ID: 17846831 Link_out

Alleles: A/C

Validation:

  • By cluster

Details:

Chromosome Reference Position
14 105239594

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGGTGCGCTGGCGGGCAGGCAGGGGGGCAGGGCCCTGGGGGCCTGGCGGCACTGACCTGAGGCCACCTTTCCCCTAGCTGGAGAAC
CTCATGCTGGACAAGGACGGGCACATTAAGATCACAGACTTCGGGCTGTGCAAGGAGGGGATCAAGGACGGTGCCACCATGAAGACCTTT
TGCGGCACACCTGAGTACCTGGC A/C CCCGAGGTGTGCGCCCCACCTGCGTGCATACGCGTTGCTGCGTCCCCACGTCCTGAGCACAC
GCAATGCTGTGTCCTCTCTGTGCCCCAAGCACGTCACACCTCCCCCGGCAGTGTCCCGGACACCCCTTGATGCCGAGTCCTGCCCATCTG
CCACCCGTGCAGGTGCTGGAGGACAATGACTACGGCCGTGCAGTGGAC-3'

[Top]

RS ID: 17846825 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
14 105241992

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 R [Arg] / R [Arg]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 R [Arg] / R [Arg]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGGGTGGAGCTCCTGATCTGGTACAGGCCTGCAGCCTCACCTGACCTCCTGCAGGGAGGAGTGGACAACCGCCATCCAGACTGTG
GCTGACGGCCTCAAGAAGCAGGAGGAGGAGGAGATGGACTTCCGGTCGGGCTCACCCAGTGACAACTCAGGGGCTGAAGAGATGGAGGTG
TCCCTGGCCAAGCCCAAGCACCG C/T GTGGTGAGGCCTGTCCCCACTTCTGCCTGTGCCTGGGGCTGCCTTGGACTGTGGAGGGCTGG
GTGGGTCATGGGGTCCCAGCTCGGCCCAGGAGACACTCAGCACTCCACGGCATCTCCACCTAGGCCGGTTTTCCATGTAGGGCGCAGCTG
CTTCCCAGGTGGGTCCTCTTCCCCATGTCAGAGGAAAACTGGGGTTGC-3'

[Top]

RS ID: 12881616 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105239589

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_005163 Link_out NP_005154 Link_out 2 E [Glu] / G [Gly]
missense NM_001014431 Link_out NP_001014431 Link_out 2 E [Glu] / G [Gly]
missense NM_001014432 Link_out NP_001014432 Link_out 2 E [Glu] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCAGTCCACTGCACGGCCGTAGTCATTGTCCTCCAGCACCTGCACGGGTGGCAGATGGGCAGGACTCGGCATCAAGGGGTGTCCG
GGACACTGCCGGGGGAGGTGTGACGTGCTTGGGGCACAGAGAGGACACAGCATTGCGTGTGCTCAGGACGTGGGGACGCAGCAACGCGTA
TGCACGCAGGTGGGGCGCACACC C/T CGGGGGCCAGGTACTCAGGTGTGCCGCAAAAGGTCTTCATGGTGGCACCGTCCTTGATCCCC
TCCTTGCACAGCCCGAAGTCTGTGATCTTAATGTGCCCGTCCTTGTCCAGCATGAGGTTCTCCAGCTAGGGGAAAGGTGGCCTCAGGTCA
GTGCCGCCAGGCCCCCAGGGCCCTGCCCCCCTGCCTGCCCGCCAGCGC-3'

[Top]

RS ID: 11555436 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105246473

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_005163 Link_out NP_005154 Link_out 1 Q [Gln] / X
nonsense NM_001014431 Link_out NP_001014431 Link_out 1 Q [Gln] / X
nonsense NM_001014432 Link_out NP_001014432 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTTCCTCCTCAAGAATGATGGCACCTTCATTGGCTACAAGGAGCGGCCG C/T AGGATGTGGACCAACGTGAGGCTCCCCTCAAC
AACTTCTCTGTGGCGCAG-3'

[Top]

RS ID: 11555435 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105236740

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_005163 Link_out NP_005154 Link_out 1 V [Val] / L [Leu]
missense NM_001014431 Link_out NP_001014431 Link_out 1 V [Val] / L [Leu]
missense NM_001014432 Link_out NP_001014432 Link_out 1 V [Val] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCAGATGATCACCATCACACCACCTGACCAAGATGACAGCATGGAGTGT G/T TGGACAGCGAGCGCAGGCCCCACTTCCCCCAG
TTCTCCTACTCGGCCAGC-3'

[Top]

RS ID: 11555434 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
14 105238783

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGCTGATCTCCAAAGCCTCAGGCCCAAGCAGAGTGGCGGGCAGGCCGGGGTCAGTTGGGCCTCTGTCCCCAACCCTGCAGCCTGCA
CCCACCCACTCAGGAAGCCCCTGCCCTGCCGTGAGCTCTGTGGTGCTTTGCTACCCACAGCTGCTCAGGGACGCTGCACCACCGGCTCCC
CTCCCTGGCCCCGGAACGTCCTGTCTGGCGGGCCCTACATCACAGGAGGAAGGGGCCTGAACCCAGGGCCTGGGCAGGTGGCGGTACCGA
CACTGTGGCCTTGTTTCCTGCCTGCAGGCTTGG C/T GGGGGCTCCGAGGACGCCAAGGAGATCATGCAGCATCGCTTCTTTGCCGGTA
TCGTGTGGCAGCACGTGTACGAGAAGAAGGTGCGGCTGCTCCCCGCATATTCACGCGCACGCATGCTCCCCACATATCCACACTCACGCA
TGCACGTGGCACGCTCGCCAGATTTCCCACACACTCGCCCTCACCTCAGGAGCCTGCTGCAGTCCTGGTACAAGGAGGGCCTTGCTGCAC
CAACCTCAGCGCCTGGTGCTCAGAGGCTCTGGCACTGCCGGGTTCCACCAGGAAACTGGCCTGGTCCT-3'

[Top]

RS ID: 11555433 Link_out

Alleles: C/T

Validation:

  • By hap map

Details:

Chromosome Reference Position
14 105241480

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_005163 Link_out NP_005154 Link_out 2 V [Val] / A [Ala]
missense NM_001014431 Link_out NP_001014431 Link_out 2 V [Val] / A [Ala]
missense NM_001014432 Link_out NP_001014432 Link_out 2 V [Val] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAGTACCTGAAGCTGCTGGGCAAGGGCACTTTCGGCAAGGTGATCCTGG C/T GAAGGAGAAGGCCACAGGCCGCTACTACGCCA
TGAAGATCCTCAAGAAGG-3'

[Top]

RS ID: 11555432 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105239317

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_005163 Link_out NP_005154 Link_out 2 L [Leu] / P [Pro]
missense NM_001014431 Link_out NP_001014431 Link_out 2 L [Leu] / P [Pro]
missense NM_001014432 Link_out NP_001014432 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGAGATGATGTGCGGTCGCCTGCCCTTCTACAACCAGGACCATGAGAAGC C/T TTTTGAGCTCATCCTCATGGAGGAGATCCGCT
TCCCGCGCACGCTTGGTC-3'

[Top]

RS ID: 11555431 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
14 105239225

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_005163 Link_out NP_005154 Link_out 1 P [Pro] / T [Thr]
missense NM_001014431 Link_out NP_001014431 Link_out 1 P [Pro] / T [Thr]
missense NM_001014432 Link_out NP_001014432 Link_out 1 P [Pro] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGCTTGGTCCCGAGGCCAAGTCCTTGCTTTCAGGGCTGCTCAAGAAGGAC A/C CCAAGCAGAGGCTTGGCGGGGGCTCCGAGGAC
GCCAAGGAGATCATGCAG-3'

[Top]

RS ID: 2230508 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
14 105239810

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGCAGCTGCCTGCTGTGGGGTGACTTGTTCCTGCTGAGTTAGGGCTTCTGAGACTTTCCAGGCCCCCRTGCCCTCTGGTGGCTGGT
CCCTTCCCTGTGCAATGCCGAGACCCGGTCTGAGAAACCCCAGCCCTGCAGGCCATGGGGGCAGAGGCCCGAGCCACGGCTGTRCCTCAG
GTTGCGCCTCCCGCAGCTGTTCTTCCACCTGTCCCGGGARCGTGTGTTCTCCGAGGACCGGGCCCGCTTCTATGGCGCTGAGATTGTGTC
AGCCCTGGACTACCTGCACTCGGAGAAGAACGT A/G GTGTACCGGGACCTCAAGGTGYGCTGGCGGGCAGGCAGGGGGGCAGGGCCCT
GGGGGCCTGGCGGCACTGACCTGAGGCCACCTTTCCCCTAGCTGGAGAACCTCATGCTGGACAAGGACGGGCACATTAAGATCACAGACT
TCGGGCTGTGCAAGGAGGGGATCAAGGACGGTGCCACCATGAAGACCTTTTGCGGCACACCTGAGTACCTGGCCCCCGRGGTGTGCGCCC
CACCTGCRTGCATACGCGTTGCTGCGTCCCCACGTCCTGAGCACACGCAATGCTGTGTCCTCTCTGTG-3'

[Top]

RS ID: 2230506 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
14 105241304

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 1 L [Leu] / L [Leu]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 1 L [Leu] / L [Leu]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 1 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGCCTGCCCATAGACCATGAACGAGTTTGAGTACCTGAAGCTGCTGGGCAAGGGCACTTTCGGCAAGGTGATCCTGGTGAAGGAG
AAGGCCACAGGCCGCTACTACGCCATGAAGATCCTCAAGAAGGAAGTCATCGTGGCCAAGGTGGGGCCGGGGCGGTGGGGCAGGGTGGAG
ATGAGGGTGCGGGGTGGCAGCTCACCCAGCCCTGCTTTACAGGACGAGGTGGCCCACACACTCACCGAGAACCGCGTC C/T TGCAGAA
CTCCAGGCACCCCTTCCTCACAGTGAGTGGGAGCCCAGATGGGGCTGAAGGGCTGGGGCCAGGTAGCGACTCCTGGGGCTGTCTCTAGGG
GACGATGTCCTGTCTTCTTGGGCACGTGAGGGCTTTACACACCGTGGACTCCGCCGCTGGTGAGACAGGCCTGCCCTGGAGGGTCAGGCT
GTGGAGGTGCCCAGTGTGGGCTAGGGGCTGTGCTCGCTGCTCCCGTGTGCGGGCAGGTGGGTGGGGCA-3'

[Top]

RS ID: 1130233 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
14 105239894

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_005163 Link_out NP_005154 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001014431 Link_out NP_001014431 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001014432 Link_out NP_001014432 Link_out 3 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGGCCGGTCCTTCCCGGAGCCTCGGCTACTCTCCATGGCACCAGACGGTGCTCCCTGCTGGGTGGGTGGTGTGATGCCTGCCYAGG
CAGCTGCCTGCTGTGGGGTGACTTGTTCCTGCTGAGTTAGGGCTTCTGAGACTTTCCAGGCCCCCRTGCCCTCTGGTGGCTGGTCCCTTC
CCTGTGCAATGCCGAGACCCGGTCTGAGAAACCCCAGCCCTGCAGGCCATGGGGGCAGAGGCCCGAGCCACGGCTGTRCCTCAGGTTGCG
CCTCCCGCAGCTGTTCTTCCACCTGTCCCGGGA A/G CGTGTGTTCTCCGAGGACCGGGCCCGCTTCTATGGCGCTGAGATTGTGTCAG
CCCTGGACTACCTGCACTCGGAGAAGAACGTRGTGTACCGGGACCTCAAGGTGYGCTGGCGGGCAGGCAGGGGGGCAGGGCCCTGGGGGC
CTGGCGGCACTGACCTGAGGCCACCTTTCCCCTAGCTGGAGAACCTCATGCTGGACAAGGACGGGCACATTAAGATCACAGACTTCGGGC
TGTGCAAGGAGGGGATCAAGGACGGTGCCACCATGAAGACCTTTTGCGGCACACCTGAGTACCTGGCC-3'