RGD:15104261 Rat Genome Database

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Variant: RGD:15104261 -  Homo sapiens

RGD ID: 15104261
RS ID: rs200164063
ClinVar ID: CV726090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B2M  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 45,007,712
GRCh38 15 44,715,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004048.4:c.159C>T
NG_012920.2:g.9038C>T
NC_000015.10:g.44715514C>T
NC_000015.9:g.45007712C>T
More... 		06/18/2020 synonymous variant likely benign B2M DEFICIENCY; BETA-2-MICROGLOBULIN DEFICIENCY; IMMUNODEFICIENCY 43
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B2M
Accession:NM_004048
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSVALAVLALLSLSGLEAIQRTPKIQVYSRHPAENGKSNFLNCYVSGFHPSDIEVDLLKNGERIEKVEHSDLSFSKDW
SFYLLYYTEFTPTEKDEYACRVNHVTLSQPKIVKWDRDM*

Gene Symbol:B2M
Accession:XM_005254549
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSVALAVLALLSLSGLEAIQRTPKIQVYSRHPAENGKSNFLNCYVSGFHPSDIEVDLLKNGERIEKVEHSDLSFSKDW
SFYLLYYTEFTPTEKDEYACRVNHVTLSQPKIVKWGKSYILL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000892848 CLINVAR
dbSNP (RS) rs200164063 CLINVAR
MedGen C1855796 CLINVAR
NCBI Gene B2M CLINVAR
OMIM 109700 CLINVAR
  241600 CLINVAR