RGD:11605596 Rat Genome Database

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Variant: RGD:11605596 -  Homo sapiens

RGD ID: 11605596
RS ID: rs143492790
ClinVar ID: CV320762
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HABP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 115,348,000
GRCh38 10 113,588,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008956.1:g.40223G>A
NC_000010.11:g.113588241G>A
NC_000010.10:g.115348000G>A
NM_004132.3:c.1555G>A
More...
06/14/2016 missense variant uncertain significance 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:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 493
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLESLDPDWTPDQYDYSYEDYNQEENTSSTLTHAENPDWYYTEDQADPCQPNPCEHGGDCLVHGSTFTCSCLAPFSGN
KCQKVQNTCKDNPCGRGQCLITQSPPYYRCVCKHPYTGPSCSQVVPVCRPNPCQNGATCSRHKRRSKFTCACPDQFKGKF
CEIGSDDCYVGDGYSYRGKMNRTVNQHACLYWNSHLLLQENYNMFMEDAETHGIGEHNFCRNPDADEKPWCFIKVTNDKV
KWEYCDVSACSAQDVAYPEESPTEPSTKLPGFDSCGKTEIAERKIKRIYGGFKSTAGKHPWQASLQSSLPLTISMPQGHF
CGGALIHPCWVLTAAHCTDIKTRHLKVVLGDQDLKKEEFHEQSFRVEKIFKYSHYNERDEIPHNDIALLKLKPVDGHCAL
ESKYVKTVCLPDGSFPSGSECHISGWGVTETGKGSRQLLDAKVKLIANTLCNSRQLYDHMIDDSMICAGNLQKPGQDTCQ
GDSGGPLTCEKDSTYYVYGIVSWGLECGKRPGVYTQVTKFLNWIKATIKSESGF*

Gene Symbol:HABP2
Accession:NM_004132
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 519
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFARMSDLHVLLLMALVGKTACGFSLMSLLESLDPDWTPDQYDYSYEDYNQEENTSSTLTHAENPDWYYTEDQADPCQPN
PCEHGGDCLVHGSTFTCSCLAPFSGNKCQKVQNTCKDNPCGRGQCLITQSPPYYRCVCKHPYTGPSCSQVVPVCRPNPCQ
NGATCSRHKRRSKFTCACPDQFKGKFCEIGSDDCYVGDGYSYRGKMNRTVNQHACLYWNSHLLLQENYNMFMEDAETHGI
GEHNFCRNPDADEKPWCFIKVTNDKVKWEYCDVSACSAQDVAYPEESPTEPSTKLPGFDSCGKTEIAERKIKRIYGGFKS
TAGKHPWQASLQSSLPLTISMPQGHFCGGALIHPCWVLTAAHCTDIKTRHLKVVLGDQDLKKEEFHEQSFRVEKIFKYSH
YNERDEIPHNDIALLKLKPVDGHCALESKYVKTVCLPDGSFPSGSECHISGWGVTETGKGSRQLLDAKVKLIANTLCNSR
QLYDHMIDDSMICAGNLQKPGQDTCQGDSGGPLTCEKDSTYYVYGIVSWGLECGKRPGVYTQVTKFLNWIKATIKSESGF
*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000321532 CLINVAR
dbSNP (RS) rs143492790 CLINVAR
MedGen CN068943 CLINVAR
NCBI Gene HABP2 CLINVAR
OMIM 603924 CLINVAR