RGD:8634064 Rat Genome Database

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Variant: RGD:8634064 -  Homo sapiens

RGD ID: 8634064
ClinVar ID: CV89282
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR1H3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 47,290,120
GRCh38 11 47,268,569
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003682.3:c.-1270G>A
NM_001251935.1:c.1235G>A
NG_030392.1:g.25270G>A
NG_029462.1:g.4194G>A
More...
2kb upstream variant|missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:NR1H3
Accession:NM_001251935
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 412
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQTSWNPLGGTCKQPPGRTHSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPS
EPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECR
LRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLR
VTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLLETSRRYNPGSESIT
FLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVS
IHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_047426201
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRS
VIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQ
LSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSRED
QIALLKTSAIEVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIF
SADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDV
HE*

Gene Symbol:NR1H3
Accession:XM_047426200
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIR
PQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQ
AGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTVMLL
ETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQLQVER
LQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_011519807
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTGVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMI
EKLVAAQQQCNRRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSA
IEVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQD
QLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:NM_001251934
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 412
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQTSWNPLGGTCKQPPGRTHSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPS
EPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECR
LRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLR
VTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLLETSRRYNPGSESIT
FLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVS
IHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_011519806
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRS
VIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQ
LSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRA
MNELQLNDAEFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQV
FALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_011519808
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEKLVAAQQQCNRRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKT
SAIEVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNV
QDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:NM_001363595
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRS
VIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQ
LSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRA
MNELQLNDAEFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQV
FALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_047426193
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRS
VIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQ
LSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSRED
QIALLKTSAIEVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIF
SADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDV
HE*

Gene Symbol:NR1H3
Accession:XM_047426198
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRS
VIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQ
LSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSRED
QIALLKTSAIEVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIF
SADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDV
HE*

Gene Symbol:NR1H3
Accession:XM_047426199
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRS
VIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQ
LSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSRED
QIALLKTSAIEVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIF
SADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDV
HE*

Gene Symbol:NR1H3
Accession:XM_047426202
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTGVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMI
EKLVAAQQQCNRRSFSDRLRVTVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDA
EFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKK
LPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_047426194
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIR
PQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQ
AGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPM
APDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLLETSRRYNPGSESITFLKDFS
YNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHD
RLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_005252706
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIR
PQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQ
AGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPM
APDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLLETSRRYNPGSESITFLKDFS
YNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHD
RLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_011519805
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIR
PQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQ
AGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPM
APDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLLETSRRYNPGSESITFLKDFS
YNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHD
RLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:NM_001130102
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRS
VIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQ
LSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSRED
QIALLKTSAIEVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIF
SADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDV
HE*

Gene Symbol:NR1H3
Accession:NM_005693
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIR
PQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQ
AGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPM
APDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLLETSRRYNPGSESITFLKDFS
YNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHD
RLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_024448298
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRS
VIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQ
LSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSRED
QIALLKTSAIEVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIF
SADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDV
HE*

Gene Symbol:NR1H3
Accession:XM_047426197
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIRPQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRS
VIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQAGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQ
LSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPMAPDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSRED
QIALLKTSAIEVMLLETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIF
SADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDV
HE*

Gene Symbol:NR1H3
Accession:XM_047426195
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIR
PQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQ
AGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTPWPM
APDPHSREARQQRFAHFTELAIVSVQEIVDFAKQLPGFLQLSREDQIALLKTSAIEVMLLETSRRYNPGSESITFLKDFS
YNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQLQVERLQHTYVEALHAYVSIHHPHD
RLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:NM_001130101
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 346
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLWLGAPVPDIPPDSAVELWKPGAQDASSQAQGGSSCILREEARMPHSAGGTAGVGLEAAEPTALLTRAEPPSEPTEIR
PQKRKKGPAPKMLGNELCSVCGDKASGFHYNVLSCEGCKGFFRRSVIKGAHYICHSGGHCPMDTYMRRKCQECRLRKCRQ
AGMREECVLSEEQIRLKKLKRQEEEQAHATSLPPRASSPPQILPQLSPEQLGMIEKLVAAQQQCNRRSFSDRLRVTVMLL
ETSRRYNPGSESITFLKDFSYNREDFAKAGLQVEFINPIFEFSRAMNELQLNDAEFALLIAISIFSADRPNVQDQLQVER
LQHTYVEALHAYVSIHHPHDRLMFPQMLMKLVSLRTLSSVHSEQVFALRLQDKKLPPLLSEIWDVHE*

Gene Symbol:NR1H3
Accession:XM_017017056
Location:INTRON

Variant Samples