rs34436714 Rat Genome Database

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Variant: rs34436714 -  Homo sapiens

RGD ID: 11548037
RS ID: rs34436714
ClinVar ID: CV257206
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NLRP12  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 54,327,313
GRCh38 19 53,824,059
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_144687.3:c.116G>T
NC_000019.10:g.53824059C>A
NC_000019.9:g.54327313C>A
NP_001264055.1:p.Gly39Val
More...
07/05/2018 missense variant benign AllHighlyPenetrant; COLD-INDUCED AUTOINFLAMMATORY SYNDROME, FAMILIAL; Familial cold urticaria; Familial polymorphous cold eruption; none provided
Disease Annotations     Click to see Annotation Detail View

GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90242535 Protein-tyrosine sulfotransferase 2 levels (TPST2.8024.64.3) 3,301 European ancestry individuals A 0.213 7E-14 13.154901959985743 Affymetrix [10572788] (imputed) 0.22 protein-tyrosine sulfotransferase 2 measurement (EFO:0801971)
PMID:29875488
GCST90240805 CUB and sushi domain-containing protein 2 levels (CSMD2.9971.5.3) 3,301 European ancestry individuals A 0.213 4E-42 41.39794000867204 Affymetrix [10572788] (imputed) 0.4 CUB and Sushi domain-containing protein 2 measurement (EFO:0803314)
PMID:29875488
GCST90243016 Thymocyte nuclear protein 1 levels (THYN1.12424.107.3) 3,301 European ancestry individuals A 0.213 2E-25 24.69897000433602 Affymetrix [10572788] (imputed) 0.31 thymocyte nuclear protein 1 measurement (EFO:0802132)
PMID:29875488
GCST90240151 40S ribosomal protein SA levels (RPSA.4957.1.2) 3,301 European ancestry individuals A 0.213 2E-53 52.69897000433602 Affymetrix [10572788] (imputed) 0.45 40s ribosomal protein SA measurement (EFO:0020119)
PMID:29875488
GCST90242512 Protein S100-A9 levels (S100A9.5339.49.3) 3,301 European ancestry individuals A 0.213 1E-95 95.0 Affymetrix [10572788] (imputed) 0.59 protein s100-a9 measurement (EFO:0020687)
PMID:29875488
GCST90241316 Grancalcin levels (GCA.12594.5.3) 3,301 European ancestry individuals A 0.213 1E-75 75.0 Affymetrix [10572788] (imputed) 0.53 grancalcin measurement (EFO:0801653)
PMID:29875488
GCST90241250 GDP-fucose protein O-fucosyltransferase 1 levels (POFUT1.5634.39.3) 3,301 European ancestry individuals A 0.213 8E-28 27.096910013008056 Affymetrix [10572788] (imputed) 0.32 GDP-fucose protein O-fucosyltransferase 1 measurement (EFO:0801621)
PMID:29875488
GCST90241651 Interleukin-7 receptor subunit alpha levels (IL7R.5089.11.3) 3,301 European ancestry individuals A 0.213 3E-16 15.522878745280337 Affymetrix [10572788] (imputed) 0.24 interleukin-7 receptor subunit alpha measurement (EFO:0020508)
PMID:29875488
GCST90243287 UPF0454 protein C12orf49 levels (C12orf49.9387.13.3) 3,301 European ancestry individuals A 0.213 5E-12 11.301029995663981 Affymetrix [10572788] (imputed) 0.21 UPF0454 protein C12orf49 measurement (EFO:0802199)
PMID:29875488
GCST90240787 Contactin-5 levels (CNTN5.3299.29.2) 3,301 European ancestry individuals A 0.213 2E-59 58.69897000433602 Affymetrix [10572788] (imputed) 0.47 contactin-5 measurement (EFO:0008101)
PMID:29875488
GCST90240791 Copine-1 levels (CPNE1.5346.24.3) 3,301 European ancestry individuals A 0.213 3E-68 67.52287874528034 Affymetrix [10572788] (imputed) 0.5 copine-1 measurement (EFO:0008102)
PMID:29875488
GCST90241119 Eukaryotic initiation factor 4A-III levels (EIF4A3.4997.19.1) 3,301 European ancestry individuals A 0.213 2E-58 57.69897000433602 Affymetrix [10572788] (imputed) 0.47 eukaryotic initiation factor 4a-III measurement (EFO:0020366)
PMID:29875488
GCST90240737 Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial levels (CHCHD10.11270.17.3) 3,301 European ancestry individuals A 0.213 1E-146 146.0 Affymetrix [10572788] (imputed) 0.71 coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement (EFO:0801483)
PMID:29875488
GCST90281222 Neutrophil side scatter 38,341 European ancestry individuals A 0.2041 2E-115 114.69897000433602 Affymetrix [29500000] (imputed) 0.199038 neutrophil measurement (EFO:0803548)
PMID:37596262
GCST90281242 Monocyte forward scatter 39,460 European ancestry individuals A 0.2098 1E-117 117.0 Affymetrix [29500000] (imputed) 0.197748 monocyte measurement (EFO:0803547)
PMID:37596262
GCST90281244 Monocyte side fluorescence distribution width 39,631 European ancestry individuals A 0.2097 7E-151 150.15490195998575 Affymetrix [29500000] (imputed) 0.228028 monocyte measurement (EFO:0803547)
PMID:37596262
GCST90281227 Neutrophil forward scatter distribution width 39,656 European ancestry individuals A 0.2098 2E-1422 1421.698970004336 Affymetrix [29500000] (imputed) 0.675798 neutrophil measurement (EFO:0803548)
PMID:37596262
GCST90281224 Neutrophil forward scatter 38,084 European ancestry individuals A 0.204 3E-22 21.522878745280337 Affymetrix [29500000] (imputed) 0.0855719 neutrophil measurement (EFO:0803548)
PMID:37596262
GCST90281225 Neutrophil side scatter distribution width 39,596 European ancestry individuals A 0.2094 4E-632 631.3979400086721 Affymetrix [29500000] (imputed) 0.459406 neutrophil measurement (EFO:0803548)
PMID:37596262
GCST90281234 Eosinophil side fluorescence distribution width 30,284 European ancestry individuals A 0.21 2E-36 35.69897000433602 Affymetrix [29500000] (imputed) 0.125199 eosinophil measurement (EFO:0803540)
PMID:37596262

Variant Details
Variant Transcripts
Gene Symbol:NLRP12
Accession:XM_017027463
Location:5UTRS;EXON

Gene Symbol:NLRP12
Accession:NM_144687
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLPERTVLLDAYSEHLAAALCTNPNLIELSL
YRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQCR
LQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVCRLRTLWLKICRLTAAACDELASTL
SVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRLGICRLGSAACEGLSVVLQANHNLRELDLSFNDLGDWGLWL
LAEGLQHPACRLQKLWLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRLLCKRLSHPGCKLRVLWLFGMDLN
KMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:NM_001277129
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLPERTVLLDAYSEHLAAALCTNPNLIELSL
YRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQCR
LQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVCRLRTLWLKICRLTAAACDELASTL
SVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRL
LCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:NM_001277126
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLRPERTVLLDAYSEHLAAALCTNPNLIELS
LYRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQC
RLQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVCRLRTLWLKICRLTAAACDELAST
LSVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRLGICRLGSAACEGLSVVLQANHNLRELDLSFNDLGDWGLW
LLAEGLQHPACRLQKLWLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRLLCKRLSHPGCKLRVLWLFGMDL
NKMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:XM_011527479
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLRPERTVLLDAYSEHLAAALCTNPNLIELS
LYRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQC
RLQMIQLKICRLTAAACDELASTLSVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRLGICRLGSAACEGLSVV
LQANHNLRELDLSFNDLGDWGLWLLAEGLQHPACRLQKLWLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVR
LLCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:XM_011527482
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLRPERTVLLDAYSEHLAAALCTNPNLIELS
LYRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQC
RLQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVCRLRTLWLDSCGLTAKACENLYFT
LGINQTLTDLYLTNNALGDTGVRLLCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:XM_011527480
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLRPERTVLLDAYSEHLAAALCTNPNLIELS
LYRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQC
RLQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVCRLRTLWLKICRLTAAACDELAST
LSVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVR
LLCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:XM_017027462
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLLKRCRISSSACEDLSAALIANKNLTRMDL
SGNGVGFPGMMLLCEGLRHPQCRLQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVCR
LRTLWLKICRLTAAACDELASTLSVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRLGICRLGSAACEGLSVVL
QANHNLRELDLSFNDLGDWGLWLLAEGLQHPACRLQKLWLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRL
LCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:XM_047439676
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLPERTVLLDAYSEHLAAALCTNPNLIELSL
YRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQCR
LQMIQLKICRLTAAACDELASTLSVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRLDSCGLTAKACENLYFTL
GINQTLTDLYLTNNALGDTGVRLLCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:XM_047439673
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLPERTVLLDAYSEHLAAALCTNPNLIELSL
YRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQCR
LQMIQLKICRLTAAACDELASTLSVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRLGICRLGSAACEGLSVVL
QANHNLRELDLSFNDLGDWGLWLLAEGLQHPACRLQKLWLDSCGLTAKACENLYFTLGINQTLTDLYLTNNALGDTGVRL
LCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:XM_047439675
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLPERTVLLDAYSEHLAAALCTNPNLIELSL
YRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQCR
LQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVCRLRTLWLDSCGLTAKACENLYFTL
GINQTLTDLYLTNNALGDTGVRLLCKRLSHPGCKLRVLWLFGMDLNKMTHSRLAALRVTKPYLDIGC*

Gene Symbol:NLRP12
Accession:XM_047439674
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRTAGRDGLCRLSTYLEELEAVELKKFKLYLGTATELVEGKIPWGSMEKAGPLEMAQLLITHFGPEEAWRLALSTFERI
NRKDLWERGQREDLVRDTPPGGPSSLGNQSTCLLEVSLVTPRKDPQETYRDYVRRKFRLMEDRNARLGECVNLSHRYTRL
LLVKEHSNPMQVQQQLLDTGRGHARTVGHQASPIKIETLFEPDEERPEPPRTVVMQGAAGIGKSMLAHKVMLDWADGKLF
QGRFDYLFYINCREMNQSATECSMQDLIFSCWPEPSAPLQELIRVPERLLFIIDGFDELKPSFHDPQGPWCLCWEEKRPT
ELLLNSLIRKKLLPELSLLITTRPTALEKLHRLLEHPRHVEILGFSEAERKEYFYKYFHNAEQAGQVFNYVRDNEPLFTM
CFVPLVCWVVCTCLQQQLEGGGLLRQTSRTTTAVYMLYLLSLMQPKPGAPRLQPPPNQRGLCSLAADGLWNQKILFEEQD
LRKHGLDGEDVSAFLNMNIFQKDINCERYYSFIHLSFQEFFAAMYYILDEGEGGAGPDQDVTRLLTEYAFSERSFLALTS
RFLFGLLNEETRSHLEKSLCWKVSPHIKMDLLQWIQSKAQSDGSTLQQGSLEFFSCLYEIQEEEFIQQALSHFQVIVVSN
IASKMEHMVSSFCLKRCRSAQVLHLYGATYSADGEDRARCSAGAHTLLVQLRPERTVLLDAYSEHLAAALCTNPNLIELS
LYRNALGSRGVKLLCQGLRHPNCKLQNLRLKRCRISSSACEDLSAALIANKNLTRMDLSGNGVGFPGMMLLCEGLRHPQC
RLQMIQLRKCQLESGACQEMASVLGTNPHLVELDLTGNALEDLGLRLLCQGLRHPVCRLRTLWLKICRLTAAACDELAST
LSVNQSLRELDLSLNELGDLGVLLLCEGLRHPTCKLQTLRVEIESVPLSATSTGLGTGPSQQILQEECLPLRPSILSLQV
GHLPAGLCRL*

Gene Symbol:NLRP12
Accession:XM_017027465
Location:INTRON

Gene Symbol:NLRP12
Accession:XM_017027464
Location:INTRON

Gene Symbol:NLRP12
Accession:XM_017027467
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248558 CLINVAR
  RCV000273265 CLINVAR
  RCV001286447 CLINVAR
  RCV001689937 CLINVAR
dbSNP (RS) rs34436714 CLINVAR
GWAS Catalog GCST005806 GWAS Catalog
MedGen C0343068 CLINVAR
  C2673198 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NLRP12 CLINVAR
OMIM 120100 CLINVAR
  609648 CLINVAR
  611762 CLINVAR
SNOMED CT 238687000 CLINVAR