RGD:156124871 Rat Genome Database

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Variant: RGD:156124871 -  Homo sapiens

RGD ID: 156124871
ClinVar ID: CV2237449
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMDHD2  CEMP1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 2,580,283
GRCh38 16 2,530,282
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001048212.3:c.*48G>C
NM_001048216.1:c.*48G>C
NM_001330449.2:c.*719C>G
NM_001410943.1:c.*719C>G
More... 		08/23/2021 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMDHD2
Accession:XM_017023267
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:XM_017023266
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:NM_015944
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:NM_001330449
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:XM_047434190
Location:3UTRS;EXON

Gene Symbol:CEMP1
Accession:NM_001048212
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:NM_001410943
Location:3UTRS;EXON

Gene Symbol:AMDHD2
Accession:NM_001145815
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 436
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKLFFEERRVADERRDCGGRILAPGFIDVQINGGFGVDF
SQATEDVGSGVALVARRILSHGVTSFCPTLVTSPPEVYHKVVPQIPVKSGGPHGAGVLGLHLEGPFISREKRGAHPEAHL
RSFEADAFQDLLATYGPLDNVRIVTLAPELGRSHEVIRALTARGICVSLGHSVADLRAAEDAVWSGATFITHLFNAMLPF
HHRDPGIVGLLTSDRLPAGRCIFYGMIADGTHTNPAALRIAHRAHPQGLVLVTDAIPALGLGNGRHTLGQQEVEVDGLTA
YVAGERPDPLGPRSQPACQVAHDPPRACPLCSQGTKTLSGSIAPMDVCVRHFLQATGCSMESALEAASLHPAQLLGLEKS
KGTLDFGADADFVVLDDSLHVQATYISGPVLAGCGEPAWCWRAVWEAPVCPAHPISVILPSSVSPWPWHTPMWQTRAVRL
PEQLRGGWASGALLALRTATVGSDVRDWCSPTSGVIVLTFSPFEFWGGWLPSPLLTGAVLGTGGTRLALPLFSSLCCKAQ
LRKCLQVQRDRMVWAPPVGREQPGKNHLPGQGLA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002762543 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene AMDHD2 CLINVAR
  CEMP1 CLINVAR
OMIM 611113 CLINVAR