RGD:8648243 Rat Genome Database

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Variant: RGD:8648243 -  Homo sapiens

RGD ID: 8648243
RS ID: rs199475571
ClinVar ID: CV108395
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124902999  PAH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 103,271,310
GRCh38 12 102,877,532
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.102877532G>A
NC_000012.11:g.103271310G>A
NP_000268.1:p.Thr124Ile
P00439:p.Thr124Ile
More... 		missense|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:PAH
Accession:XM_017019370
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRIIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQIPAVL
*

Gene Symbol:PAH
Accession:NM_001354304
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRIIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:PAH
Accession:NM_000277
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 124
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF
THLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRIIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ
FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF
RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK
LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR
NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:LOC124902999
Accession:XR_007063428
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000088906 CLINVAR
dbSNP (RS) rs199475571 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PAH CLINVAR
OMIM 612349 CLINVAR