RGD:405270290 Rat Genome Database

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Variant: RGD:405270290 -  Homo sapiens

RGD ID: 405270290
ClinVar ID: CV3187673
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAF  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 79,628,432
GRCh38 16 79,594,535
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001031804.3:c.*4246G>A
NM_005360.5:c.1137G>A
NG_016440.1:g.11191G>A
NG_016440.2:g.11202G>A
More... 		03/01/2024 3 prime utr variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:MAF
Accession:NM_001031804
Location:3UTRS;EXON

Gene Symbol:MAF
Accession:NM_005360
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGS
GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA
AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA
GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK
NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFITEPTRKLEPSVGYATFWKPQHRVLTSV
FTK*

Gene Symbol:MAF
Accession:XM_017023234
Location:INTRON

Gene Symbol:MAF
Accession:XM_017023235
Location:INTRON

Gene Symbol:MAF
Accession:XM_017023233
Location:INTRON

Gene Symbol:MAF
Accession:XM_024450279
Location:INTRON

Gene Symbol:MAF
Accession:XR_001751902
Location:INTRON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957804
Location:INTRON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957803
Location:INTRON;NON-CODING

Gene Symbol:MAF
Accession:XR_002957802
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV003887757 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MAF CLINVAR
OMIM 177075 CLINVAR