RGD:15123734 Rat Genome Database

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Variant: RGD:15123734 -  Homo sapiens

RGD ID: 15123734
RS ID: rs979965735
ClinVar ID: CV753122
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TESC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 117,484,388
GRCh38 12 117,046,583
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001168325.2:c.414G>A
NP_060369.3:p.Ala165=
NR_031766.3:n.634G>A
NM_017899.4:c.495G>A
More... 		04/30/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TESC
Accession:XM_047429044
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAAHSASEEVRELEGKTGFSSDQIEQLHRRFKQLSGDQPTIRNLRKGPSGLADEINFEDFLTIMSYFRPIDTTMDEEQV
ELSRKEKLRFLFHMYDSDSDGRITLEEYRNVVEELLSGNPHIEKESARSIADGAMMEAASVCMGQMIWQGIDIETKMHVR
FLNMETMALCH*

Gene Symbol:TESC
Accession:NM_017899
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAAHSASEEVRELEGKTGFSSDQIEQLHRRFKQLSGDQPTIRKENFNNVPDLELNPIRSKIVRAFFDNRNLRKGPSGLA
DEINFEDFLTIMSYFRPIDTTMDEEQVELSRKEKLRFLFHMYDSDSDGRITLEEYRNVVEELLSGNPHIEKESARSIADG
AMMEAASVCMGQMEPDQVYEGITFEDFLKIWQGIDIETKMHVRFLNMETMALCH*

Gene Symbol:TESC
Accession:XM_017019532
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAAHSASEEVRELEGKTGFSSDQIEQLHRRFKQLSGDQPTIRKENFNNVPDLELNPIRSKIVRAFFDNRNLRKGPSGLA
DEINFEDFLTIMSYFRPIDTTMDEEQVELSRKEKLRFLFHMYDSDSDGRITLEEYRNVVEELLSGNPHIEKESARSIADG
AMMEAASVCMGQMIWQGIDIETKMHVRFLNMETMALCH*

Gene Symbol:TESC
Accession:XM_011538503
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESSQEHVSSDQIEQLHRRFKQLSGDQPTIRKENFNNVPDLELNPIRSKIVRAFFDNRNLRKGPSGLADEINFEDFLTIM
SYFRPIDTTMDEEQVELSRKEKLRFLFHMYDSDSDGRITLEEYRNVVEELLSGNPHIEKESARSIADGAMMEAASVCMGQ
MEPDQVYEGITFEDFLKIWQGIDIETKMHVRFLNMETMALCH*

Gene Symbol:TESC
Accession:NM_001168325
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAAHSASEEVRELEGKTGFSSDQIEQLHRRFKQLSGDQPTIRNLRKGPSGLADEINFEDFLTIMSYFRPIDTTMDEEQV
ELSRKEKLRFLFHMYDSDSDGRITLEEYRNVVEELLSGNPHIEKESARSIADGAMMEAASVCMGQMEPDQVYEGITFEDF
LKIWQGIDIETKMHVRFLNMETMALCH*

Gene Symbol:TESC
Accession:NR_031766
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000918870 CLINVAR
dbSNP (RS) rs979965735 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TESC CLINVAR
OMIM 611585 CLINVAR