RGD:15106510 Rat Genome Database

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Variant: RGD:15106510 -  Homo sapiens

RGD ID: 15106510
RS ID: rs140247782
ClinVar ID: CV717596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMMECR1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 109,441,790
GRCh38 X 110,198,562
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171689.2:c.591T>C
NM_001025580.2:c.849T>C
NM_015365.3:c.960T>C
NG_016469.1:g.246672T>C
More... 		01/23/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AMMECR1
Accession:NM_001171689
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPLFVTWKIGRDKRLRGCIGTFSAMNLHSGLREYTLTSALKDSRFP
PMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIRIEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAP
ITNEFRKTIKLTRYRSEKMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS*

Gene Symbol:AMMECR1
Accession:NM_015365
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 320
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLTGGGSGSGCTLSPPQGCGGGG
GGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPGSRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPL
FVTWKIGRDKRLRGCIGTFSAMNLHSGLREYTLTSALKDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIR
IEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSEKMTLSYAEYLAHRQHHHFQN
GIGHPLPPYNHYS*

Gene Symbol:AMMECR1
Accession:NM_001025580
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLTGGGSGSGCTLSPPQGCGGGG
GGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPGSRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYAL
KDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIRIEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRK
GGYKAPITNEFRKTIKLTRYRSEKMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000960090 CLINVAR
dbSNP (RS) rs140247782 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene AMMECR1 CLINVAR
OMIM 300195 CLINVAR