RGD:11545029 Rat Genome Database

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Variant: RGD:11545029 -  Homo sapiens

RGD ID: 11545029
RS ID: rs114527907
ClinVar ID: CV251982
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCCC2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 70,952,573
GRCh38 5 71,656,746
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008882.1:g.74459A>G
NC_000005.10:g.71656746A>G
NC_000005.9:g.70952573A>G
NP_071415.1:p.Val526=
More... 		09/16/2020 synonymous variant benign 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency; 3 alpha methylcrotonylglycinuria 2; 3 Methylcrotonylglycinuria; 3-MCC Deficiency; AllHighlyPenetrant; Deficiency of methylcrotonoyl-CoA carboxylase; MCC 2 deficiency; Methylcrotonylglycinuria type 2; METHYLCROTONYLGLYCINURIA, TYPE II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCCC2
Accession:NM_001363147
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQVKAATGEEVSAEDLGGADLHCRKSGVSDHWAL
DDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTG
FARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKIT
LIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGN
PYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM*

Gene Symbol:MCCC2
Accession:NM_022132
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 526
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIF
LAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGI
VGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLF
LQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAAN
VLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGI
FRM*

Gene Symbol:MCCC2
Accession:XM_011543529
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417470
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_017009688
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417469
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417468
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000244585 CLINVAR
  RCV000872944 CLINVAR
  RCV001271413 CLINVAR
dbSNP (RS) rs114527907 CLINVAR
MedGen C1859499 CLINVAR
  C4551505 CLINVAR
  CN169374 CLINVAR
NCBI Gene MCCC2 CLINVAR
OMIM 210210 CLINVAR
  609014 CLINVAR
SNOMED CT 13144005 CLINVAR