RGD:15137996 Rat Genome Database

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Variant: RGD:15137996 -  Homo sapiens

RGD ID: 15137996
RS ID: rs372373576
ClinVar ID: CV739360
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101928462  TSHR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 81,609,935
GRCh38 14 81,143,591
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000369.5:c.1533G>A
NC_000014.8:g.81609935G>A
NM_000369.2:c.1533G>A
NP_000360.2:p.Thr511=
More... 		12/04/2017 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TSHR
Accession:XM_011537119
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 418
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHYSDCVPCNLYREIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITDNPYMTSIPVNAFQ
GLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTALPSKGLEHLKELI
ARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNSPLHQEYEENLGDS
IVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTPKSDEFNPCEDIMG
YKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSEYYNHAIDWQTGPG
CNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGISSYAKVSICLPMD
TETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAILNKPL
ITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQVQKVTHEMRQGLH
NMEDVYELIENSHLTPKKQGQISEEYMQTVL*

Gene Symbol:TSHR
Accession:NM_000369
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 511
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPADLLQLVLLLDLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPSTQTLKLIETHLRTIPSHAFSNLPNISR
IYVSIDVTLQQLESHSFYNLSKVTHIEIRNTRNLTYIDPDALKELPLLKFLGIFNTGLKMFPDLTKVYSTDIFFILEITD
NPYMTSIPVNAFQGLCNETLTLKLYNNGFTSVQGYAFNGTKLDAVYLNKNKYLTVIDKDAFGGVYSGPSLLDVSQTSVTA
LPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTRADLSYPSHCCAFKNQKKIRGILESLMCNESSMQSLRQRKSVNALNS
PLHQEYEENLGDSIVGYKEKSKFQDTHNNAHYYVFFEEQEDEIIGFGQELKNPQEETLQAFDSHYDYTICGDSEDMVCTP
KSDEFNPCEDIMGYKFLRIVVWFVSLLALLGNVFVLLILLTSHYKLNVPRFLMCNLAFADFCMGMYLLLIASVDLYTHSE
YYNHAIDWQTGPGCNTAGFFTVFASELSVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVCCFLLALLPLVGI
SSYAKVSICLPMDTETPLALAYIVFVLTLNIVAFVIVCCCYVKIYITVRNPQYNPGDKDTKIAKRMAVLIFTDFICMAPI
SFYALSAILNKPLITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFILLSKFGICKRQAQAYRGQRVPPKNSTDIQ
VQKVTHEMRQGLHNMEDVYELIENSHLTPKKQGQISEEYMQTVL*

Gene Symbol:TSHR
Accession:NM_001142626
Location:INTRON

Gene Symbol:TSHR
Accession:NM_001018036
Location:INTRON

Gene Symbol:LOC101928462
Accession:XR_001751022
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064289
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064290
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064288
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064287
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064291
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_001751018
Location:INTRON;NON-CODING

Gene Symbol:LOC101928462
Accession:XR_007064286
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000898903 CLINVAR
  RCV003895479 CLINVAR
dbSNP (RS) rs372373576 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TSHR CLINVAR
OMIM 603372 CLINVAR