RGD:10053436 Rat Genome Database

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Variant: RGD:10053436 -  Homo sapiens

RGD ID: 10053436
RS ID: rs794727971
ClinVar ID: CV196262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR1I3  TOMM40L  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 161,199,632
GRCh38 1 161,229,842
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029113.1:g.13369G>T
NC_000001.11:g.161229842C>A
NC_000001.10:g.161199632C>A
NP_001070950.1:p.Gln343His
More... 		03/01/2018 3 prime utr variant|intron variant|missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TOMM40L
Accession:XM_011510057
Location:3UTRS;EXON

Gene Symbol:TOMM40L
Accession:NM_032174
Location:3UTRS;EXON

Gene Symbol:TOMM40L
Accession:NM_001286374
Location:3UTRS;EXON

Gene Symbol:TOMM40L
Accession:NM_001286373
Location:3UTRS;EXON

Gene Symbol:TOMM40L
Accession:XM_006711572
Location:3UTRS;EXON

Gene Symbol:TOMM40L
Accession:XM_047431897
Location:3UTRS;EXON

Gene Symbol:NR1I3
Accession:NM_001077480
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASREDELRNCVVCGDQATGYHFNALTCEGCKGFFRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDM
ILSAEALALRRAKQAQRRAQQTPVQLSKEQEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTH
FADINTFMVLQVIKFTKDLPVFRSLPIEDQISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARVSPTVGFQV
EFLELLFHFHGTLRKLQLQEPEYVLLAAMALFSPDRPGVTQRDEIDQLQEEMALTLQSYIKGQQRRPRDRFLYAKLLGLL
AELRSINEAYGYQIQHIHGLSAMMPLLQEICS*

Gene Symbol:NR1I3
Accession:NM_001077470
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPKRSRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDMILSAEALALRRAKQAQRRAQQTPVQLSKE
QEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTHFADINTFMVLQVIKFTKDLPVFRSLPIED
QISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARDRPGVTQRDEIDQLQEEMALTLQSYIKGQQRRPRDRFL
YAKLLGLLAELRSINEAYGYQIQHIHGLSAMMPLLQEICS*

Gene Symbol:NR1I3
Accession:NM_001077479
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPKRSRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDMILSAEALALRRAKQAQRRAQQTPVQLSKE
QEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTHFADINTFMVLQVIKFTKDLPVFRSLPIED
QISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLAAMALFS
PDRPGVTQRDEIDQLQEEMALTLQSYIKGQQRRPRDRFLYAKLLGLLAELRSINEAYGYQIQHIHGLSAMMPLLQEICS*

Gene Symbol:NR1I3
Accession:NM_001077471
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASREDELRNCVVCGDQATGYHFNALTCEGCKGFFRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDM
ILSAEALALRRAKQAQRRAQQTPVQLSKEQEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTH
FADINTFMVLQVIKFTKDLPVFRSLPIEDQISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARDRPGVTQRD
EIDQLQEEMALTLQSYIKGQQRRPRDRFLYAKLLGLLAELRSINEAYGYQIQHIHGLSAMMPLLQEICS*

Gene Symbol:NR1I3
Accession:NM_001077482
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASREDELRNCVVCGDQATGYHFNALTCEGCKGFFRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDM
ILSAEALALRRAKQAQRRAQQTPVQLSKEQEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTH
FADINTFMVLQVIKFTKDLPVFRSLPIEDQISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARVSPTVGFQV
EFLELLFHFHGTLRKLQLQEPEYVLLAAMALFSPAPYLTDRPGVTQRDEIDQLQEEMALTLQSYIKGQQRRPRDRFLYAK
LLGLLAELRSINEAYGYQIQHIHGLSAMMPLLQEICS*

Gene Symbol:NR1I3
Accession:NM_001077472
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPKRSRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDMILSAEALALRRAKQAQRRAQQTPVQLSKE
QEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTHFADINTFMVLQVIKFTKDLPVFRSLPIED
QISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLAAMALFS
PAPYLTDRPGVTQRDEIDQLQEEMALTLQSYIKGQQRRPRDRFLYAKLLGLLAELRSINEAYGYQIQHIHGLSAMMPLLQ
EICS*

Gene Symbol:NR1I3
Accession:XM_005245697
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASREDELRNCVVCGDQATGYHFNALTCEGCKGFFRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDM
ILSAEALALRRAKQAQRRAQQTPVQLSKEQEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTH
FADINTFMVLQVIKFTKDLPVFRSLPIEDQISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARVGFQVEFLE
LLFHFHGTLRKLQLQEPEYVLLAAMALFSPAPYLTDRPGVTQRDEIDQLQEEMALTLQSYIKGQQRRPRDRFLYAKLLGL
LAELRSINEAYGYQIQHIHGLSAMMPLLQEICS*

Gene Symbol:NR1I3
Accession:NM_001077481
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASREDELRNCVVCGDQATGYHFNALTCEGCKGFFRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDM
ILSAEALALRRAKQAQRRAQQTPVQLSKEQEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTH
FADINTFMVLQVIKFTKDLPVFRSLPIEDQISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARAPYLTDRPG
VTQRDEIDQLQEEMALTLQSYIKGQQRRPRDRFLYAKLLGLLAELRSINEAYGYQIQHIHGLSAMMPLLQEICS*

Gene Symbol:NR1I3
Accession:XM_005245693
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPKRSRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDMILSAEALALRRAKQAQRRAQQTPVQLSKE
QEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTHFADINTFMVLQVIKFTKDLPVFRSLPIED
QISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARVSPTVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLAAM
ALFSPAPYLTDRPGVTQRDEIDQLQEEMALTLQSYIKGQQRRPRDRFLYAKLLGLLAELRSINEAYGYQIQHIHGLSAMM
PLLQEICS*

Gene Symbol:NR1I3
Accession:NM_005122
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 334
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASREDELRNCVVCGDQATGYHFNALTCEGCKGFFRRTVSKSIGPTCPFAGSCEVSKTQRRHCPACRLQKCLDAGMRKDM
ILSAEALALRRAKQAQRRAQQTPVQLSKEQEELIRTLLGAHTRHMGTMFEQFVQFRPPAHLFIHHQPLPTLAPVLPLVTH
FADINTFMVLQVIKFTKDLPVFRSLPIEDQISLLKGAAVEICHIVLNTTFCLQTQNFLCGPLRYTIEDGARVGFQVEFLE
LLFHFHGTLRKLQLQEPEYVLLAAMALFSPDRPGVTQRDEIDQLQEEMALTLQSYIKGQQRRPRDRFLYAKLLGLLAELR
SINEAYGYQIQHIHGLSAMMPLLQEICS*

Gene Symbol:NR1I3
Accession:NM_001077474
Location:INTRON

Gene Symbol:NR1I3
Accession:NM_001077476
Location:INTRON

Gene Symbol:NR1I3
Accession:NM_001077469
Location:INTRON

Gene Symbol:NR1I3
Accession:NM_001077473
Location:INTRON

Gene Symbol:NR1I3
Accession:NM_001077478
Location:INTRON

Gene Symbol:NR1I3
Accession:NM_001077475
Location:INTRON

Gene Symbol:NR1I3
Accession:NM_001077477
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000180612 CLINVAR
dbSNP (RS) rs794727971 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NR1I3 CLINVAR
  TOMM40L CLINVAR
OMIM 603881 CLINVAR