RGD:8629695 Rat Genome Database

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Variant: RGD:8629695 -  Homo sapiens

RGD ID: 8629695
ClinVar ID: CV84842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCA1  LOC124904210  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 86,959,949
GRCh38 1 86,494,266
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001285.3:c.1760C>T
NC_000001.11:g.86494266C>T
NC_000001.10:g.86959949C>T
NP_001276.2:p.Thr587Ile
More... 		missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:CLCA1
Accession:NM_001285
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 587
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPFKSSVFILILHLLEGALSNSLIQLNNNGYEGIVVAIDPNVPEDETLIQQIKDMVTQASLYLLEATGKRFYFKNVAIL
IPETWKTKADYVRPKLETYKNADVLVAESTPPGNDEPYTEQMGNCGEKGERIHLTPDFIAGKKLAEYGPQGRAFVHEWAH
LRWGVFDEYNNDEKFYLSNGRIQAVRCSAGITGTNVVKKCQGGSCYTKRCTFNKVTGLYEKGCEFVLQSRQTEKASIMFA
QHVDSIVEFCTEQNHNKEAPNKQNQKCNLRSTWEVIRDSEDFKKTTPMTTQPPNPTFSLLQIGQRIVCLVLDKSGSMATG
NRLNRLNQAGQLFLLQTVELGSWVGMVTFDSAAHVQNELIQINSGSDRDTLAKRLPAAASGGTSICSGLRSAFTVIRKKY
PTDGSEIVLLTDGEDNTISGCFNEVKQSGAIIHTVALGPSAAQELEELSKMTGGLQTYASDQVQNNGLIDAFGALSSGNG
AVSQRSIQLESKGLTLQNSQWMNGTVIVDSTVGKDTLFLITWTMQPPQILLWDPSGQKQGGFVVDKNTKMAYLQIPGIAK
VGTWKYSLQASSQTLTLTVTSRASNAILPPITVTSKTNKDTSKFPSPLVVYANIRQGASPILRASVTALIESVNGKTVTL
ELLDNGAGADATKDDGVYSRYFTTYDTNGRYSVKVRALGGVNAARRRVIPQQSGALYIPGWIENDEIQWNPPRPEINKDD
VQHKQVCFSRTSSGGSFVASDVPNAPIPDLFPPGQITDLKAEIHGGSLINLTWTAPGDDYDHGTAHKYIIRISTSILDLR
DKFNESLQVNTTALIPKEANSEEVFLFKPENITFENGTDLFIAIQAVDKVDLKSEISNIARVSLFIPPQTPPETPSPDET
SAPCPNIHINSTIPGIHILKIMWKWIGELQLSIA*

Gene Symbol:LOC124904210
Accession:XR_007066206
Location:INTRON;NON-CODING

Variant Samples