rs2037746156 Rat Genome Database

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Variant: rs2037746156 -  Homo sapiens

RGD ID: 126750957
RS ID: rs2037746156
ClinVar ID: CV995950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPHN  RDH11  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 68,157,943
GRCh38 14 67,691,226
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001252650.2:c.368T>C
NM_016026.4:c.368T>C
NG_042282.1:g.9568T>C
NC_000014.9:g.67691226A>G
More... 		04/09/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RDH11
Accession:NM_016026
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVELMFPLLLLLLPFLLYMAAPQIRKMLSSGVCTSTVQLPGKVVVVTGANTGIGKETAKELAQRGARVYLACRDVEKGEL
VAKEIQTTTGNQQVLVRKLDLSDTKSIRAFAKGFLAEEKHLHALINNAGVMMCPYSKTADGFEMHIGVNHLGHFLLTHLL
LEKLKESAPSRIVNVSSLAHHLGRIHFHNLQGEKFYNAGLAYCHSKLANILFTQELARRLKGSGVTTYSVHPGTVQSELV
RHSSFMRWMWWLFSFFIKTPQQGAQTSLHCALTEGLEILSGNHFSDCHVAWVSAQARNETIARRLWDVSCDLLGLPID*

Gene Symbol:RDH11
Accession:NM_001252650
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVELMFPLLLLLLPFLLYMAAPQIRKMLSSGVCTSTVQLPGKVVVVTGANTGIGKETAKELAQRGARVYLACRDVEKGEL
VAKEIQTTTGNQQVLVRKLDLSDTKSIRAFAKGFLAEEKHLHALINNAGVMMCPYSKTADGFEMHIGVNHLGSGVTTYSV
HPGTVQSELVRHSSFMRWMWWLFSFFIKTPQQGAQTSLHCALTEGLEILSGNHFSDCHVAWVSAQARNETIARRLWDVSC
DLLGLPID*

Gene Symbol:GPHN
Accession:NM_020806
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001024218
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536340
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536343
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536345
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536344
Location:INTRON

Gene Symbol:GPHN
Accession:XM_011536342
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020913
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020914
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020918
Location:INTRON

Gene Symbol:GPHN
Accession:XM_017020917
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377514
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377519
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377515
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377516
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377518
Location:INTRON

Gene Symbol:GPHN
Accession:NM_001377517
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430879
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430876
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430875
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430878
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430877
Location:INTRON

Gene Symbol:GPHN
Accession:XM_047430880
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001297425 CLINVAR
dbSNP (RS) rs2037746156 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GPHN CLINVAR
  RDH11 CLINVAR
OMIM 603930 CLINVAR
  607849 CLINVAR