RGD:8648500 Rat Genome Database

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Variant: RGD:8648500 -  Homo sapiens

RGD ID: 8648500
RS ID: rs199475637
ClinVar ID: CV108653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 103,240,673
GRCh38 12 102,846,895
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.102846895T>C
NC_000012.11:g.103240673T>C
NP_000268.1:p.Thr323=
NG_008690.2:g.116516A>G
More... 		02/13/2021 synonymous variant uncertain significance|not provided Folling disease; none provided; Oligophrenia phenylpyruvica; Phenylketonurias
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAH
Accession:NM_000277
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:NM_001354304
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:XM_017019370
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10394930   PMID:18590700   PMID:25525159  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000089183 CLINVAR
  RCV000672139 CLINVAR
dbSNP (RS) rs199475637 CLINVAR
MedGen C0031485 CLINVAR
  CN517202 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 261600 CLINVAR
  612349 CLINVAR