RGD:28871189 Rat Genome Database

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Variant: RGD:28871189 -  Homo sapiens

RGD ID: 28871189
RS ID: rs1884748119
ClinVar ID: CV869215
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127825014  MMAB  MVK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 110,011,279
GRCh38 12 109,573,474
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.109573474C>T
NR_038118.2:n.31G>A
NM_052845.3:c.7G>A
NP_443077.1:p.Val3Met
More... 		01/13/2018 missense variant uncertain significance Methylmalonic acidemia cblB type; METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE; Vitamin B12-responsive methylmalonic acidemia type cblB
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MVK
Accession:XM_017019313
Location:5UTRS;EXON

Gene Symbol:MMAB
Accession:NM_052845
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALCGLGSRLGLGSRLGLRGCFGAARLLYPRFQSRGPQGVEDGDRPQPSSKTPRIPKIYTKTGDKGFSSTFTGERRPKDD
QVFEAVGTTDELSSAIGFALELVTEKGHTFAEELQKIQCTLQDVGSALATPCSSAREAHLKYTTFKAGPILELEQWIDKY
TSQLPPLTAFILPSGGKISSALHFCRAVCRRAERRVVPLVQMGETDANVAKFLNRLSDYLFTLARYAAMKEGNQEKIYMK
NDPSAESEGL*

Gene Symbol:MVK
Accession:XM_047428873
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATTPRFTAGVRVALPASHSPVPVFHALRAAALETGIQEPGGAEAPAQAKTAPQAKTAPQAAQSHEPGCLTGPDPARFPS
SPRGDSTHSWPRHRSGFPGAMLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKR
AWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPG
AGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGK
ISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDM
NQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIH
SATSLDSRVQQALDGL*

Gene Symbol:MMAB
Accession:NR_038118
Location:EXON;NON-CODING

Gene Symbol:MVK
Accession:NM_001114185
Location:INTRON

Gene Symbol:MVK
Accession:NM_000431
Location:INTRON

Gene Symbol:MVK
Accession:NM_001301182
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414512
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414513
Location:INTRON

Gene Symbol:MMAB
Accession:XM_011538269
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414515
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414511
Location:INTRON

Gene Symbol:MMAB
Accession:XM_011538267
Location:INTRON

Gene Symbol:MVK
Accession:XM_017019314
Location:INTRON

Gene Symbol:MMAB
Accession:XM_047428770
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414514
Location:INTRON

Gene Symbol:MVK
Accession:NR_182758
Location:INTRON;NON-CODING

Gene Symbol:MVK
Accession:NR_182762
Location:INTRON;NON-CODING

Gene Symbol:MVK
Accession:NR_182760
Location:INTRON;NON-CODING

Gene Symbol:MVK
Accession:NR_182759
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001113946 CLINVAR
dbSNP (RS) rs1884748119 CLINVAR
MedGen C1855102 CLINVAR
NCBI Gene MMAB CLINVAR
  MVK CLINVAR
OMIM 251110 CLINVAR
  251170 CLINVAR
  607568 CLINVAR