RGD:28907934 Rat Genome Database

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Variant: RGD:28907934 -  Homo sapiens

RGD ID: 28907934
RS ID: rs113225892
ClinVar ID: CV865447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HABP2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 115,334,089
GRCh38 10 113,574,330
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.70A>T
NM_004132.5:c.148A>T
NG_008956.1:g.26312A>T
NC_000010.11:g.113574330A>T
More... 		01/13/2018 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_004132
Location:EXON
Amino Acid Prediction: N to Y (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFARMSDLHVLLLMALVGKTACGFSLMSLLESLDPDWTPDQYDYSYEDYYQEENTSSTLTHAENPDWYYTEDQADPCQPN
PCEHGGDCLVHGSTFTCSCLAPFSGNKCQKVQNTCKDNPCGRGQCLITQSPPYYRCVCKHPYTGPSCSQVVPVCRPNPCQ
NGATCSRHKRRSKFTCACPDQFKGKFCEIGSDDCYVGDGYSYRGKMNRTVNQHACLYWNSHLLLQENYNMFMEDAETHGI
GEHNFCRNPDADEKPWCFIKVTNDKVKWEYCDVSACSAQDVAYPEESPTEPSTKLPGFDSCGKTEIAERKIKRIYGGFKS
TAGKHPWQASLQSSLPLTISMPQGHFCGGALIHPCWVLTAAHCTDIKTRHLKVVLGDQDLKKEEFHEQSFRVEKIFKYSH
YNERDEIPHNDIALLKLKPVDGHCALESKYVKTVCLPDGSFPSGSECHISGWGVTETGKGSRQLLDAKVKLIANTLCNSR
QLYDHMIDDSMICAGNLQKPGQDTCQGDSGGPLTCEKDGTYYVYGIVSWGLECGKRPGVYTQVTKFLNWIKATIKSESGF
*

Gene Symbol:HABP2
Accession:NM_001177660
Location:EXON
Amino Acid Prediction: N to Y (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLLESLDPDWTPDQYDYSYEDYYQEENTSSTLTHAENPDWYYTEDQADPCQPNPCEHGGDCLVHGSTFTCSCLAPFSGN
KCQKVQNTCKDNPCGRGQCLITQSPPYYRCVCKHPYTGPSCSQVVPVCRPNPCQNGATCSRHKRRSKFTCACPDQFKGKF
CEIGSDDCYVGDGYSYRGKMNRTVNQHACLYWNSHLLLQENYNMFMEDAETHGIGEHNFCRNPDADEKPWCFIKVTNDKV
KWEYCDVSACSAQDVAYPEESPTEPSTKLPGFDSCGKTEIAERKIKRIYGGFKSTAGKHPWQASLQSSLPLTISMPQGHF
CGGALIHPCWVLTAAHCTDIKTRHLKVVLGDQDLKKEEFHEQSFRVEKIFKYSHYNERDEIPHNDIALLKLKPVDGHCAL
ESKYVKTVCLPDGSFPSGSECHISGWGVTETGKGSRQLLDAKVKLIANTLCNSRQLYDHMIDDSMICAGNLQKPGQDTCQ
GDSGGPLTCEKDGTYYVYGIVSWGLECGKRPGVYTQVTKFLNWIKATIKSESGF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001107501 CLINVAR
dbSNP (RS) rs113225892 CLINVAR
MedGen CN068943 CLINVAR
NCBI Gene HABP2 CLINVAR
OMIM 603924 CLINVAR