RGD:15156664 Rat Genome Database

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Variant: RGD:15156664 -  Homo sapiens

RGD ID: 15156664
RS ID: rs55694053
ClinVar ID: CV731779
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INSRR  NTRK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 156,811,471
GRCh38 1 156,841,679
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014215.3:c.3513C>T
NG_007493.1:g.30930G>A
NC_000001.11:g.156841679G>A
NC_000001.10:g.156811471G>A
More...
06/01/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:INSRR
Accession:NM_014215
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 1171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVPSLWPWGACLPVIFLSLGFGLDTVEVCPSLDIRSEVAELRQLENCSVVEGHLQILLMFTATGEDFRGLSFPRLTQVT
DYLLLFRVYGLESLRDLFPNLAVIRGTRLFLGYALVIFEMPHLRDVALPALGAVLRGAVRVEKNQELCHLSTIDWGLLQP
APGANHIVGNKLGEECADVCPGVLGAAGEPCAKTTFSGHTDYRCWTSSHCQRVCPCPHGMACTARGECCHTECLGGCSQP
EDPRACVACRHLYFQGACLWACPPGTYQYESWRCVTAERCASLHSVPGRASTFGIHQGSCLAQCPSGFTRNSSSIFCHKC
EGLCPKECKVGTKTIDSIQAAQDLVGCTHVEGSLILNLRQGYNLEPQLQHSLGLVETITGFLKIKHSFALVSLGFFKNLK
LIRGDAMVDGNYTLYVLDNQNLQQLGSWVAAGLTIPVGKIYFAFNPRLCLEHIYRLEEVTGTRGRQNKAEINPRTNGDRA
ACQTRTLRFVSNVTEADRILLRWERYEPLEARDLLSFIVYYKESPFQNATEHVGPDACGTQSWNLLDVELPLSRTQEPGV
TLASLKPWTQYAVFVRAITLTTEEDSPHQGAQSPIVYLRTLPAAPTVPQDVISTSNSSSHLLVRWKPPTQRNGNLTYYLV
LWQRLAEDGDLYLNDYCHRGLRLPTSNNDPRFDGEDGDPEAEMESDCCPCQHPPPGQVLPPLEAQEASFQKKFENFLHNA
ITIPISPWKVTSINKSPQRDSGRHRRAAGPLRLGGNSSDFEIQEDKVPRERAVLSGLRHFTEYRIDIHACNHAAHTVGCS
AATFVFARTMPHREADGIPGKVAWEASSKNSVLLRWLEPPDPNGLILKYEIKYRRLGEEATVLCVSRLRYAKFGGVHLAL
LPPGNYSARVRATSLAGNGSWTDSVAFYILGPEEEDAGGLHVLLTATPVGLTLLIVLAALGFFYGKKRNRTLYASVNPEY
FSASDMYVPDEWEVPREQISIIRELGQGSFGMVYEGLARGLEAGEESTPVALKTVNELASPRECIEFLKEASVMKAFKCH
HVVRLLGVVSQGQPTLVIMELMTRGDLKSHLRSLRPEAENNPGLPQPALGEMIQMAGEIADGMAYLAANKFVHRDLAARN
CMVSQDFTVKIGDFGMTRDVYETDYYRKGGKGLLPVRWMAPESLKDGIFTTHSDVWSFGVVLWEIVTLAEQPYQGLSNEQ
VLKFVMDGGVLEELEGCPLQLQELMSRCWQPNPRLRPSFTHILDSIQEELRPSFRLLSFYYSPECRGARGSLPTTDAEPD
SSPTPRDCSPQNGGPGH*

Gene Symbol:NTRK1
Accession:NM_001007792
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_002529
Location:INTRON

Gene Symbol:NTRK1
Accession:NM_001012331
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000902371 CLINVAR
dbSNP (RS) rs55694053 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene INSRR CLINVAR
  NTRK1 CLINVAR
OMIM 147671 CLINVAR
  191315 CLINVAR