RGD:156108433 Rat Genome Database

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Variant: RGD:156108433 -  Homo sapiens

RGD ID: 156108433
ClinVar ID: CV2254416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM129  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 1,718,945
GRCh38 4 1,717,218
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_064424.1:g.729C>T
NC_000004.12:g.1717218C>T
NM_138385.4:c.*192G>A
NM_001127266.2:c.1051G>A
More... 		01/18/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM129
Accession:NM_138385
Location:3UTRS;EXON

Gene Symbol:TMEM129
Accession:NM_001127266
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASE
KRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAP
GARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFDIWLNSTEYGELCEKL
RAPIRRAAHVVIHQSLGDLFLETFASLVEVNPAYSVPSSQELEACIGCMQTRASVKLVKTCQEAATGECQQCYCRPMWCL
TCMGKWFASRQDPLRPDTWLASRVPCPTCRTRFCILDVCTVR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004123799 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM129 CLINVAR
OMIM 615975 CLINVAR