RGD:15127911 Rat Genome Database

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Variant: RGD:15127911 -  Homo sapiens

RGD ID: 15127911
RS ID: rs142650346
ClinVar ID: CV714078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHRS2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 24,108,151
GRCh38 14 23,638,942
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182908.4:c.78C>A
NM_182908.5:c.78C>A
NP_878912.1:p.Thr26=
NC_000014.8:g.24108151C>A
More... 		08/24/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DHRS2
Accession:XM_011536338
Location:5UTRS;INTRON

Gene Symbol:DHRS2
Accession:XM_011536339
Location:5UTRS;INTRON

Gene Symbol:DHRS2
Accession:XM_005267249
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAVARGYQGWFHPCARLSVRMSSTGIDRKGVLANRVAVVTGSTSGIGFAIARRLARDGAHVVISSRKQQNVDRAMAKL
QGEGLSVAGIVCHVGKAEDREQLVAKALEHCGGVDFLVCSAGVNPLVGSTLGTSEQIWDKILSVNVKSPALLLSQLLPYM
ENRRGAVILVSSIAAYNPVVALGVYNVSKTALLGLTRTLALELAPKDIRVNCVVPGIIKTDFSKVFHGNESLWKNFKEHH
QLQRIGESEDCAGIVSFLCSPDASYVNGENIAVAGYSTRL*

Gene Symbol:DHRS2
Accession:NM_005794
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAVARGYQGWFHPCARLSVRMSSTGIDRKGVLANRVAVVTGSTSGIGFAIARRLARDGAHVVISSRKQQNVDRAMAKL
QGEGLSVAGIVCHVGKAEDREQLVAKALEHCGGVDFLVCSAGVNPLVGSTLGTSEQIWDKILSVNVKSPALLLSQLLPYM
ENRRGAVILVSSIAAYNPVVALGVYNVSKTALLGLTRTLALELAPKDIRVNCVVPGIIKTDFSKVFHGNESLWKNFKEHH
QLQRIGESEDCAGIVSFLCSPDASYVNGENIAVAGYSTRL*

Gene Symbol:DHRS2
Accession:XM_006720001
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAVARGYQGWFHPCARLSVRMSSTGIDRKGVLANRVAVVTGSTSGIGFAIARRLARDGAHVVISSRKQQNVDRAMAKL
QGEGLSVAGIVCHVGKAEDREQLVAKALEHCGGVDFLVCSAGVNPLVGSTLGTSEQIWDKILSVNVKSPALLLSQLLPYM
ENRRGAVILVSSIAAYNPVVALGVYNVSKTALLGLTRTLALELAPKDIRVNCVVPGIIKTDFSKVFHGNESLWKNFKEHH
QLQRIGESEDCAGIVSFLCSPDASYVNGENIAVAGYSTRL*

Gene Symbol:DHRS2
Accession:NM_182908
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAVARGYQGWFHPCARLSVRMSSTGIDRKGVLANRVAVVTGSTSGIGFAIARRLARDGAHVVISSRKQQNVDRAMAKL
QGEGLSVAGIVCHVGKAEDREQLVAKALEHCGGVDFLVCSAGVNPLVGSTLGTSEQIWDKILSVNVKSPALLLSQLLPYM
ENRRGAVILVSSIAAYNPVVALGVYNVSKTALLGLTRTLALELAPKDIRVNCVVPGIIKTDFSKVVRIGFMGMSLSGRTS
RNIISCRGLGSQRTVQESCPSCALQMPATSTGRTLRWQATPLGSERSGGGCVAVVPGPGA*

Gene Symbol:DHRS2
Accession:NM_001318835
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAVARGYQGWFHPCARLSVRMSSTGIDRKGVLANRVAVVTGSTSGIGFAIARRLARDGAHVVISSRKQQNVDRAMAKL
QGEGLSVAGIVCHVGKAEDREQLVAKALEHCGGVDFLVCSAGVNPLVGSTLGTSEQIWDKGPQGGTHF*

Gene Symbol:DHRS2
Accession:XM_047430874
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSAVARGYQGWFHPCARLSVRMSSTGIDRKGVLANRVAVVTGSTSGIGFAIARRLARDGAHVVISSRKQQNVDRAMAKL
QGEGLSVAGIVCHVGKAEDREQLVAKALEHCGGVDFLVCSAGVNPLVGSTLGTSEQIWDKILSVNVKSPALLLSQLLPYM
ENRRGAVILVSSIAAYNPVVALGVYNVSKTALLGLTRTLALELAPKDIRVNCVVPGIIKTDFSKVFHGNESLWKNFKEHH
QLQRIGESEDCAGIVSFLCSPDASYVNGENIAVAGYSTRL*

Gene Symbol:DHRS2
Accession:XR_007063976
Location:EXON;NON-CODING

Gene Symbol:DHRS2
Accession:XR_007063974
Location:EXON;NON-CODING

Gene Symbol:DHRS2
Accession:XR_007063975
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000963990 CLINVAR
dbSNP (RS) rs142650346 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DHRS2 CLINVAR
OMIM 615194 CLINVAR