RGD:38486989 Rat Genome Database

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Variant: RGD:38486989 -  Homo sapiens

RGD ID: 38486989
RS ID: rs1723792447
ClinVar ID: CV931862
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: P3H2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 189,706,756
GRCh38 3 189,988,967
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001134418.2:c.352T>G
NM_018192.4:c.895T>G
NG_031929.1:g.138471T>G
NC_000003.12:g.189988967A>C
More... 		08/15/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:P3H2
Accession:NM_001134418
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEMQQNIENYRATAGVEALQLVDREAKPHMESYNAGVKHYEADDFEMAIRHFEQALREYFVEDTECRTLCEGPQRFEEYE
YLGYKAGLYEAIADHYMQVLVCQHECVRELATRPGRLAPIENFLPLHYDYLQFAYYRVGEYVKALECAKAYLLCHPDDED
VLDNVDYYESLLDDSIDPASIEAREDLTMFVKRHKLESELIKSAAEGLGFSYTEPNYWIRYGGRQDENRVPSGVNVEGAE
VHGFSMGKKLSPKIDRDLREGGPLLYENITFVYNSEQLNGTQRVLLDNVLSEEQCRELHSVASGIMLVGDGYRGKTSPHT
PNEKFEGATVLKALKSGYEGRVPLKSARLFYDISEKARRIVESYFMLNSTLYFSYTHMVCRTALSGQQDRRNDLSHPIHA
DNCLLDPEANECWKEPPAYTFRDYSALLYMNDDFEGGEFIFTEMDAKTVTASIKPKCGRMISFSSGGENPHGVKAVTKGK
RCAVALWFTLDPLYRELERIQADEVIAILDQEQQGKHELNINPKDEL*

Gene Symbol:P3H2
Accession:NM_018192
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRERIWAPPLLLLLPLLLPPPLWGGPPDSPRRELELEPGPLQPFDLLYASGAAAYYSGDYERAVRDLEAALRSHRRLREI
RTRCARHCAARHPLPPPPPGEGPGAELPLFRSLLGRARCYRSCETQRLGGPASRHRVSEDVRSDFQRRVPYNYLQRAYIK
LNQLEKAVEAAHTFFVANPEHMEMQQNIENYRATAGVEALQLVDREAKPHMESYNAGVKHYEADDFEMAIRHFEQALREY
FVEDTECRTLCEGPQRFEEYEYLGYKAGLYEAIADHYMQVLVCQHECVRELATRPGRLAPIENFLPLHYDYLQFAYYRVG
EYVKALECAKAYLLCHPDDEDVLDNVDYYESLLDDSIDPASIEAREDLTMFVKRHKLESELIKSAAEGLGFSYTEPNYWI
RYGGRQDENRVPSGVNVEGAEVHGFSMGKKLSPKIDRDLREGGPLLYENITFVYNSEQLNGTQRVLLDNVLSEEQCRELH
SVASGIMLVGDGYRGKTSPHTPNEKFEGATVLKALKSGYEGRVPLKSARLFYDISEKARRIVESYFMLNSTLYFSYTHMV
CRTALSGQQDRRNDLSHPIHADNCLLDPEANECWKEPPAYTFRDYSALLYMNDDFEGGEFIFTEMDAKTVTASIKPKCGR
MISFSSGGENPHGVKAVTKGKRCAVALWFTLDPLYRELERIQADEVIAILDQEQQGKHELNINPKDEL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001209133 CLINVAR
dbSNP (RS) rs1723792447 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene P3H2 CLINVAR
OMIM 610341 CLINVAR