RGD:15101578 Rat Genome Database

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Variant: RGD:15101578 -  Homo sapiens

RGD ID: 15101578
RS ID: rs150472705
ClinVar ID: CV758036
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCN2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 31,011,330
GRCh38 22 30,615,343
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001184726.2:c.542G>A
NM_000355.4:c.623G>A
NG_007263.1:g.13170G>A
NC_000022.11:g.30615343G>A
More... 		12/31/2019 missense variant benign|likely benign TC II DEFICIENCY; TCN2 DEFICIENCY; Transcolabamin II deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TCN2
Accession:NM_000355
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGY
QQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANCEFVRGHKGDRLVSQLKWFLEDEKRAIGHDHKGHPHTSYYQYGLG
ILALCLHQKRVHDSVVDKLLYAVEPFHQGHHSVDTAAMAGLAFTCLKHSNFNPGRRQRITMAIRTVREEILKAQTPEGHF
GNVYSTPLALQFLMTSPMRGAELGTACLKARVALLASLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAA
ETIPQTQEIISVTLQVLSLLPPYRQSISVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRD
PNTPLLQGIADYRPKDGETIELRLVSW*

Gene Symbol:TCN2
Accession:NM_001184726
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRHLGAFLFLLGVLGALTEMCEIPEMDSHLVEKLGQHLLPWMDRLSLEHLNPSIYVGLRLSSLQAGTKEDLYLHSLKLGY
QQCLLGSAFSEDDGDCQGKPSMGQLALYLLALRANWHDHKGHPHTSYYQYGLGILALCLHQKRVHDSVVDKLLYAVEPFH
QGHHSVDTAAMAGLAFTCLKHSNFNPGRRQRITMAIRTVREEILKAQTPEGHFGNVYSTPLALQFLMTSPMRGAELGTAC
LKARVALLASLQDGAFQNALMISQLLPVLNHKTYIDLIFPDCLAPRVMLEPAAETIPQTQEIISVTLQVLSLLPPYRQSI
SVLAGSTVEDVLKKAHELGGFTYETQASLSGPYLTSVMGKAAGEREFWQLLRDPNTPLLQGIADYRPKDGETIELRLVSW
*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000914809 CLINVAR
  RCV003902939 CLINVAR
dbSNP (RS) rs150472705 CLINVAR
MedGen C0342701 CLINVAR
NCBI Gene TCN2 CLINVAR
OMIM 275350 CLINVAR
  613441 CLINVAR
SNOMED CT 237934001 CLINVAR