rs35955363 Rat Genome Database

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Variant: rs35955363 -  Homo sapiens

RGD ID: 15150971
RS ID: rs35955363
ClinVar ID: CV709172
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SETD7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 140,468,178
GRCh38 4 139,547,024
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.12:g.139547024C>T
NC_000004.11:g.140468178C>T
NP_001293128.1:p.Pro22=
NP_001293129.1:p.Pro22=
More... 		12/31/2019 non-coding transcript variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SETD7
Accession:NM_001306199
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSDDEMVEEAVEGHLDDDGLPHGFCTVTYSSTDRFEGNFVHGEKNGRGKFFFFDGSTLEGYYVDDALQGQGVYTYEDGG
VLQGTYVDGELNGPAQEYDTDGRLIFKGQYKDNIRHGVCWIYYPDGGSLVGEVNEDGEMTGEKIAYVYPDERTALYGKFI
DGEMIEGKLATLMSTEEGRPHFELMPGNSVYHFDKSTSSCISTNALLPDPYESERVYVAESLISSAGEGLFSKVAVGPNT
VMSFYNGVRITHQEVDSRDWALNGNTLSLDEETVIDVPEPYNHVSKYCASLGHKANHSFTPNCIYDIGQKNHLGTCKRSR
FGAPLPKIPHLDQAPWVEHRKAGIPLYSAAQGLMLIMMFVSN*

Gene Symbol:SETD7
Accession:NM_030648
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSDDEMVEEAVEGHLDDDGLPHGFCTVTYSSTDRFEGNFVHGEKNGRGKFFFFDGSTLEGYYVDDALQGQGVYTYEDGG
VLQGTYVDGELNGPAQEYDTDGRLIFKGQYKDNIRHGVCWIYYPDGGSLVGEVNEDGEMTGEKIAYVYPDERTALYGKFI
DGEMIEGKLATLMSTEEGRPHFELMPGNSVYHFDKSTSSCISTNALLPDPYESERVYVAESLISSAGEGLFSKVAVGPNT
VMSFYNGVRITHQEVDSRDWALNGNTLSLDEETVIDVPEPYNHVSKYCASLGHKANHSFTPNCIYDMFVHPRFGPIKCIR
TLRAVEADEELTVAYGYDHSPPGKSGPEAPEWYQVELKAFQATQQK*

Gene Symbol:SETD7
Accession:NM_001306200
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSDDEMVEEAVEGHLDDDGLPHGFCTVTYSSTDRFEGNFVHGEKNGRGKFFFFDGSTLEGYYVDDALQGQGVYTYEDGG
VLQGTYVDGELNGPAQEYDTDGRLIFKGQYKDNIRHGVCWIYYPVSRVTVHSAGK*

Gene Symbol:SETD7
Accession:NR_131339
Location:EXON;NON-CODING

Gene Symbol:SETD7
Accession:XM_017008661
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000968044 CLINVAR
dbSNP (RS) rs35955363 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SETD7 CLINVAR
OMIM 606594 CLINVAR