RGD:28906771 Rat Genome Database

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Variant: RGD:28906771 -  Homo sapiens

RGD ID: 28906771
RS ID: rs567136227
ClinVar ID: CV865446
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HABP2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 115,312,926
GRCh38 10 113,553,167
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001177660.3:c.-10+2206C>G
NM_004132.5:c.46C>G
NG_008956.1:g.5149C>G
NC_000010.11:g.113553167C>G
More... 		03/06/2018 intron variant likely benign Factor vii-activating protease marburg i
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HABP2
Accession:NM_001177660
Location:5UTRS;INTRON

Gene Symbol:HABP2
Accession:NM_004132
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFARMSDLHVLLLMAVVGKTACGFSLMSLLESLDPDWTPDQYDYSYEDYNQEENTSSTLTHAENPDWYYTEDQADPCQPN
PCEHGGDCLVHGSTFTCSCLAPFSGNKCQKVQNTCKDNPCGRGQCLITQSPPYYRCVCKHPYTGPSCSQVVPVCRPNPCQ
NGATCSRHKRRSKFTCACPDQFKGKFCEIGSDDCYVGDGYSYRGKMNRTVNQHACLYWNSHLLLQENYNMFMEDAETHGI
GEHNFCRNPDADEKPWCFIKVTNDKVKWEYCDVSACSAQDVAYPEESPTEPSTKLPGFDSCGKTEIAERKIKRIYGGFKS
TAGKHPWQASLQSSLPLTISMPQGHFCGGALIHPCWVLTAAHCTDIKTRHLKVVLGDQDLKKEEFHEQSFRVEKIFKYSH
YNERDEIPHNDIALLKLKPVDGHCALESKYVKTVCLPDGSFPSGSECHISGWGVTETGKGSRQLLDAKVKLIANTLCNSR
QLYDHMIDDSMICAGNLQKPGQDTCQGDSGGPLTCEKDGTYYVYGIVSWGLECGKRPGVYTQVTKFLNWIKATIKSESGF
*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001106839 CLINVAR
dbSNP (RS) rs567136227 CLINVAR
MedGen CN068943 CLINVAR
NCBI Gene HABP2 CLINVAR
OMIM 603924 CLINVAR