SNPJam Report for SPTBN1

Showing coding SNPs for SPTBN1 (Gene ID: 6711)

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: 113976087 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54887137

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_178313 Link_out NP_842565 Link_out 1 V [Val] / I [Ile]
utr-5 NM_003128 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTTCAAAAGGAGAACAAGTTTCCCAAAACGGTTTGCCAGCTGAACAGGGATCTCCACGG A/G TTAGTTACCGCTCTCAAACCTA
CCAAAACTACAAAAACTTTAATAGCAGACGGACAGCCA-3'

[Top]

RS ID: 113726088 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54849540

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_003128 Link_out NP_003119 Link_out 2 N [Asn] / T [Thr]
missense NM_178313 Link_out NP_842565 Link_out 2 N [Asn] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCGGTCGTTTTGTGTGCATGCACTCGTATAGGGTTACAATCGTATTTAACTTATGGAGTGACATGATCTTTTCAATTTTTCTATCCC
TTGTTGCCAGGTGCTTGACAATGCTATTGAAACAGAAAAAATGATTGAAAAGTATGAATCACTTGCCTCTGACCTTCTGGAATGGATTGA
ACAAACCATCATCATTCTGAACA A/C TCGCAAATTTGCCAATTCACTGGTCGGGGTTCAACAGCAGCTTCAGGCATTCAACACTTACC
GCACTGTGGAGAAACCACCCAAGTAAGATGCATATTGTAGTGTGATCATTAATATGGAAAGACACATCACTGTAGCCAACAGATCCCTAT
GTTCTGATTTCTGTAATCTCATCTCTTAACTGAATGCCTTTCAGTAGT-3'

[Top]

RS ID: 112170553 Link_out

Alleles: A/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
2 54856352

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_003128 Link_out NP_003119 Link_out 2 F [Phe] / Y [Tyr]
missense NM_178313 Link_out NP_842565 Link_out 2 F [Phe] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCTGAGCGCAGGGCCCGTCTGGAAGAGTCCCGCCGCCTCTGGAAGTTCTTCTGGGAGATGGCAGAAGAGGAAGGCTGGATACGGGA
GAAGGAGAAGATCCTGTCCTCGGACGATTACGGGAAAGACCTGACCAGCGTCATGCGCCTGCTCAGCAAGCACCGGGCGTTCGAGGACGA
GATGAGCGGCCGCAGTGGCCACT A/T TGAGCAGGCCATCAAGGAAGGCGAAGACATGATCGCGGAGGAGCACTTCGGGTCGGAGAAGA
TCCGTGAGAGGATCATTTACATCCGGGAGCAGTGGGCCAACCTAGAGCAGCTCTCGGCCATTCGGAAGAAGCGCCTGGAGGAGGCCTCCC
TGCTGCACCAGTTCCAGGCAGATGCTGATGACATTGATGCCTGGATGC-3'

[Top]

RS ID: 111447497 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54858443

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_003128 Link_out NP_003119 Link_out 1 S [Ser] / P [Pro]
missense NM_178313 Link_out NP_842565 Link_out 1 S [Ser] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTTGGACGACTTCCAGTCCTGGCTCTCTAGGACCCAGACAGCGATCGCC C/T CGGAGGACATGCCAAACACCCTGACCGAGGCT
GAGAAGCTGCTCACGCAG-3'

[Top]

RS ID: 79870668 Link_out

Alleles: G/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
2 54885102

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_003128 Link_out NP_003119 Link_out 3 K [Lys] / N [Asn]
missense NM_178313 Link_out NP_842565 Link_out 3 K [Lys] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGGCAGCAGTGCCAAGAGGTAAGGCCATATGACTGCCCGGCACCTCCTGGTCAACGTGTACTAACTCATGGTACCCTGTGCAGTT
CTGGAGGTCCATCAGTTCTCAAGAGACGCCAGTGTGGCCGAGGCCTGGCTGCTTGGACAGGAGCCGTACCTATCCAGCCGAGAGATAGGC
CAGAGCGTGGACGAGGTGGAGAA G/T CTCATCAAGCGCCACGAGGCATTTGAAAAGTCTGCAGCAACCTGGGATGAGAGGTTCTCTGC
CCTGGAAAGGCTGACTACAGTAAGTGGCCGCTGGGCCCTTTGTCTGTTGGTGCCCTGGGCAGCCTTTTCTTCCTGCTTGCCTCTTAGACC
AGGGAATTCACACGATTGCTTGTTTTTGTTTTTTGGGTTTTTTTCAAG-3'

[Top]

RS ID: 76198367 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
2 54853229

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_003128 Link_out NP_003119 Link_out 2 A [Ala] / V [Val]
missense NM_178313 Link_out NP_842565 Link_out 2 A [Ala] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATTTTTTATTTTCCTTCTTTTCATTCCGTTTCTCTGTAGGACAACTTTGGGTTTGACCTTCCTGCAGTTGAGGCCGCCACAAAAAA
GCACGAGGCCATTGAGACAGACATTGCCGCATACGAGGAGCGTGTGCAGGCTGTGGTAGCCGTGGCCAGGGAGCTCGAGGCCGAGAATTA
CCACGACATCAAGCGCATCACAG C/T GAGGAAGGACAATGTCATCCGGCTCTGGGAATACCTACTGGAACTGCTCAGGGCCCGGAGAC
AGCGGCTCGAGATGAACCTGGGGCTGCAGAAGATATTCCAGGAAATGCTCTACATTATGGACTGGATGGATGAAATGAAGGTAAAACCTG
ACCGAAAGGAAGGACGACAGAGCTGATCCAACCAGGGCTCTCTTTTCT-3'

[Top]

RS ID: 75544206 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54880891

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_003128 Link_out NP_003119 Link_out 2 V [Val] / G [Gly]
missense NM_178313 Link_out NP_842565 Link_out 2 V [Val] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCATCCAGAGCATGAGGTCGCGCACCATGCTGAAGAAGCGGAACTTGTCCCCTGTGTCC A/C CCAGCCGCACCCTGCGGCTCTC
ACAGGCGTCCAGGAGGGACTTCCAGGCTTCCAGGACCT-3'

[Top]

RS ID: 71785596 Link_out

Alleles: (LARGEDELETION)/-

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54891831

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_003128 Link_out NP_003119 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGATGTCCAGCTGGCTTTGTGGGTGTGCAATGGTTTTACTGTACTGCCTCGATCTGTGCCAGGCATTTATACACAGCCACATGTGCG
AGTCAGGTAGAGCGTATGTGGTCACCCCCATGGCTCACGGAGTTAGCTGAATGGCCTCTCCGCTGTCCCTAGATGGCAGAAACGGTGGAC
ACAAGCGAAATGGTCAACGGCGCTACAGAACAAAGGACGAGCTCTAAAGAGTCCAGCCCCATCCCCTCCCCGACCTCTGATCGTAAAGCC
AAGACTGCCCTCCCAGCCCAGAGTGCCGCCACCTTACCAGCCAGAACCCAGGAGACACCTTCGGCCCAGATGGAAGGCTTCCTCAATCGG
AAACACGAGTGGGAGGCCCACAATAAGAAAGCCTCAAGCAGGT (LARGEDELETION)/- CCTGGCACAATGTTTATTGTGTCATAAA
TAACCAAGAAATGGGTTTCTACAAAGATGCAAAGACTGCTGCTTCTGGAATTCCCTACCACAGCGAGGTCCCTGTGAGTTTGAAAGAAGC
TGTCTGCGAAGTGGCCCTTGATTACAAAAAGAAGAAACACGTATTCAAGCTAAGGTGAGAGTCGCCGTGCTTCATGGCTGCCAGAGTGGG
TTTGCATTTACTTCCACTCTGGGGTTTGGTTTTCTTATACAGCTGCTGTGATTAGTTGGTTCTGTCTTCTGCCATTTTAAATCCCCAATA
AAGTGAAAAACCAGTTTGGCACGTGTCTCGGTTAGGCTGAATTCTTTGGCAACTGTGGCCAGCCACCAGCTTCCCTGTGGTTAACAGTAC
ATCTGAGCATT-3'

[Top]

RS ID: 35918531 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54858131

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_003128 Link_out NP_003119 Link_out 1 E [Glu] / X
frameshift NM_178313 Link_out NP_842565 Link_out 1 E [Glu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTTCACAGTTTGAGTGAGATGATTTTCCAAAAAAGCATGTAGTCAAAGCACAGATGGAGAAAACAGATAAGCAGCATTAACCCATC
ACTGTTCCTTTTGCAATCCAGCCATGGTCAGTCTTCCCTTTTTCACACTCGCTGTCTGCCCCTGCACTCACAGGTGGAGCCAGTTCAGAG
AACTGGTTGACAGGAAGAAGGATGCCCTCCTGTCTGCCCTGAGCATCCAGAACTACCACCTCGAGTGCAATGAAACCAAATCCTGGATTC
GGGAAAAGACCAAGGTCATCGAGTCCACCCAGG -/T ACCTGGGCAATGACCTGGCTGGCGTCATGGCCCTGCAGCGCAAGCTGACCGG
CATGGAGCGGGACTTGGTGGCCATTGAGGCAAAGCTGAGTGACCTGCAGAAGGAGGCGGAGAAGCTGGAGTCCGAGCACCCCGACCAGGC
CCAGGCCATCCTGTCTCGGCTGGCCGAGATCAGCGACGTGTGGGAGGAGATGAAGACCACCCTGAAAAACCGAGAGGCCTCCCTGGGAGA
GGCCAGCAAGCTGCAGCAGTTCCTACGGGACTTGGACGACTTCCAGTCCTGGCTCTCTAGGACCCAGA-3'

[Top]

RS ID: 35357181 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54891645

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_003128 Link_out NP_003119 Link_out 2 T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTACCAAAGGAATAAAACTACATGAGCACATACTTCTCTTCCAATTCAAGAGTGGCCCGCCTTATCCCTTCACAGGCTGACTTCCCA
TCTTACTGTGGCAGCCTCTGCTGCTGTTACCTGCTTGAGGCTTTCTTATTGTGGGCCTCCCACTCGTGTTTCCGATTGAGGAAGCCTTCC
ATCTGGGCCGAAGGTGTCTCCTGGGTTCTGGCTGGTAAGGTGGCGGCACTCTGGGCTGGGAGGGCAGTCTTGGCTTTACGATCAGAGGTC
GGGGAGGGGATGGGGCTGGACTCTTTAGAGCTC A/G TCCTTTGTTCTGTAGCGCCGTTGACCATTTCGCTTGTGTCCACCGTTTCTGC
CATCTAGGGACAGCGGAGAGGCCATTCAGCTAACTCCGTGAGCCATGGGGGTGACCACATACGCTCTACCTGACTCGCACATGTGGCTGT
GTATAAATGCCTGGCACAGATCGAGGCAGTACAGTAAAACCATTGCACACCCACAAAGCCAGCTGGACATCAAGGACATTAGAAGGTGGG
AATGGATTAATACCCGCCCATTTACAGGGAAATGAGAAAAGCGAAATGCCAGTATGAGTTTTACTGCA-3'

[Top]

RS ID: 34183856 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54876229

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_003128 Link_out NP_003119 Link_out 1 H [His] / P [Pro]
frameshift NM_178313 Link_out NP_842565 Link_out 1 H [His] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTGGCTCTTCACGACTTCAAATTGTGGCCAATTTCAGAATTTTATTTTTCATGCTAAGTGGGTTAACCAGAGTTTCCTTTGAGAAA
TATGATGTAATATGCTCTCCCATTATCTCCACCTCATTTGTTTTTCCCCTGAAGAAACTTGACATTTAAGATCCTTTTTCTCCCCATTGC
TCCTTTTCTTTTTCAGTGAGCGCATTAGCATGCGGCAGTCCAAAGTGGATAAACTGTACGCTGGTCTGAAAGACCTTGCTGAAGAGAGAA
GAGGCAAGCTGGATGAGAGACACAGGTTATTCC -/C AGCTCAACCGGGAGGTGGACGACCTGGAGCAGTGGATCGCTGAGAGGGAGGT
GGTCGCAGGGTCCCATGAACTGGGACAGGACTATGAGCATGTCACGGCAAGTACTTGAGGCAGTGCATGAGTTGGTTGTGCAGTAAGCGA
TGGTGTGGAAGGCCATTTGCATTCCTTGTCTGTGAGCAGATAAAATGCCCTGGACTCCAATCAGAGGTCTTGGGGTTTAGTTTTAAGGTG
GTGTTTCTTTTATAAGCTGGTGACTCGCATTTAGGTTGGCTAACCTCTCTGTGCACCCCTTCCTCCGG-3'

[Top]

RS ID: 34174151 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54893129

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_003128 Link_out NP_003119 Link_out 2 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTTGCCCTGTGCCCTGTCCCTGAACTCTCCATGGAGGAATTTTTTCTGTTGTTTAGTGTTAGCAGAATTTAGGAAGGGCTTGTAAT
AAGGAAGGTTGAGGGTTGGGTGGGGTCACACTGTGTTGTGTGAGGATCATTTTCATGTTAATGAAATGTTTAGTTCTTTAAGGGGAATGT
GGTAGAGCCTTTATCTCCCCCTGCCCTTTTTTTTAAACTGCACAGGTCCTGGCACAATGTTTATTGTGTCATAAATAACCAAGAAATGGG
TTTCTACAAAGATGCAAAGACTGCTGCTTCTGG -/G AATTCCCTACCACAGCGAGGTCCCTGTGAGTTTGAAAGAAGCTGTCTGCGAA
GTGGCCCTTGATTACAAAAAGAAGAAACACGTATTCAAGCTAAGGTGAGAGTCGCCGTGCTTCATGGCTGCCAGAGTGGGTTTGCATTTA
CTTCCACTCTGGGGTTTGGTTTTCTTATACAGCTGCTGTGATTAGTTGGTTCTGTCTTCTGCCATTTTAAATCCCCAATAAAGTGAAAAA
CCAGTTTGGCACGTGTCTCGGTTAGGCTGAATTCTTTGGCAACTGTGGCCAGCCACCAGCTTCCCTGT-3'

[Top]

RS ID: 34012577 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54876159

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_003128 Link_out NP_003119 Link_out 3 K [Lys] / K [Lys]
frameshift NM_178313 Link_out NP_842565 Link_out 3 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACTACCCATCCCTAGTGTAATAGTAGGGATAGGTGAATGTAGTTTACATATTGGCTCTTTTGTTTACATATTGGCTCTTCACGACT
TCAAATTGTGGCCAATTTCAGAATTTTATTTTTCATGCTAAGTGGGTTAACCAGAGTTTCCTTTGAGAAATATGATGTAATATGCTCTCC
CATTATCTCCACCTCATTTGTTTTTCCCCTGAAGAAACTTGACATTTAAGATCCTTTTTCTCCCCATTGCTCCTTTTCTTTTTCAGTGAG
CGCATTAGCATGCGGCAGTCCAAAGTGGATAAA -/A CTGTACGCTGGTCTGAAAGACCTTGCTGAAGAGAGAAGAGGCAAGCTGGATG
AGAGACACAGGTTATTCCAGCTCAACCGGGAGGTGGACGACCTGGAGCAGTGGATCGCTGAGAGGGAGGTGGTCGCAGGGTCCCATGAAC
TGGGACAGGACTATGAGCATGTCACGGCAAGTACTTGAGGCAGTGCATGAGTTGGTTGTGCAGTAAGCGATGGTGTGGAAGGCCATTTGC
ATTCCTTGTCTGTGAGCAGATAAAATGCCCTGGACTCCAATCAGAGGTCTTGGGGTTTAGTTTTAAGG-3'

[Top]

RS ID: 1804471 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54856594

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_003128 Link_out NP_003119 Link_out 1 D [Asp] / Y [Tyr]
missense NM_178313 Link_out NP_842565 Link_out 1 D [Asp] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTCTCCAGCAGCGACGTGGGCCAC G/T ATGAGTATTCCACACAGTCTCTGGT-3'

[Top]

RS ID: 1052790 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
2 54871685

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_003128 Link_out NP_003119 Link_out 1 D [Asp] / H [His]
missense NM_178313 Link_out NP_842565 Link_out 1 D [Asp] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATGGCTGCACGGCCTGGAGAGTCAGATTCAGTCTGATGACTATGGCAAA C/G ACCTGACCAGTGTCAATATCCTGCTGAAAAAG
CAACAGATGCTGGAGAAT-3'