rs766597566 Rat Genome Database

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Variant: rs766597566 -  Homo sapiens

RGD ID: 152032778
RS ID: rs766597566
ClinVar ID: CV1629509
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127825014  MMAB  MVK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 110,011,226
GRCh38 12 109,573,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_052845.4:c.60G>A
LRG_156:g.4727C>T
NG_007096.1:g.5077G>A
NC_000012.12:g.109573421C>T
More... 		09/08/2023 non-coding transcript variant likely benign 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:MVK
Accession:XM_047428873
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATTPRFTAGVRVALPASHSPVPVFHALRAAALETGIQEPGGAEATAQAKTAPQAKTAPQAAHSHEPGCLTGPDPARFPS
SPRGDSTHSWPRHRSGFPGAMLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKR
AWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPG
AGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGK
ISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDM
NQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIH
SATSLDSRVQQALDGL*

Gene Symbol:MMAB
Accession:NM_052845
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVCGLGSRLGLGSRLGLRGCFGAARLLYPRFQSRGPQGVEDGDRPQPSSKTPRIPKIYTKTGDKGFSSTFTGERRPKDD
QVFEAVGTTDELSSAIGFALELVTEKGHTFAEELQKIQCTLQDVGSALATPCSSAREAHLKYTTFKAGPILELEQWIDKY
TSQLPPLTAFILPSGGKISSALHFCRAVCRRAERRVVPLVQMGETDANVAKFLNRLSDYLFTLARYAAMKEGNQEKIYMK
NDPSAESEGL*

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

Gene Symbol:MMAB
Accession:XM_011538267
Location:INTRON

Gene Symbol:MVK
Accession:NM_001114185
Location:INTRON

Gene Symbol:MVK
Accession:NM_000431
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414511
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414515
Location:INTRON

Gene Symbol:MMAB
Accession:XM_047428770
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414513
Location:INTRON

Gene Symbol:MVK
Accession:NM_001301182
Location:INTRON

Gene Symbol:MMAB
Accession:XM_011538269
Location:INTRON

Gene Symbol:MVK
Accession:XM_017019314
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414512
Location:INTRON

Gene Symbol:MVK
Accession:NM_001414514
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002106434 CLINVAR
dbSNP (RS) rs766597566 CLINVAR
MedGen C1855102 CLINVAR
NCBI Gene MMAB CLINVAR
  MVK CLINVAR
OMIM 251110 CLINVAR
  251170 CLINVAR
  607568 CLINVAR