RGD:156256993 Rat Genome Database

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Variant: RGD:156256993 -  Homo sapiens

RGD ID: 156256993
ClinVar ID: CV2264844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOCS7  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 36,508,719
GRCh38 17 38,352,836
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014598.4:c.784C>G
NC_000017.11:g.38352836C>G
NC_000017.10:g.36508719C>G
NM_014598.2:c.592C>G
More... 		04/22/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SOCS7
Accession:XM_017024551
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQEAELRDGEAAAAAASYRVLSRLLGYGEAAPEPGPPPPPPGHGPPPPPFLARPGPRGSRPPQLMVFRNVGRPPEEEDVE
AAPEPGPSELLCPRHRCALDPKALPPGLALERTWGPAAGLEAQLAALGLGQPAGPGVKTVGGGCCPCPCPPQPPPPQPQP
PAAAPQAGEDPTETSDALLVLEGLESEAESLETNSCSEEELSSPGRGGGGGGRLLLQPPGPELPPVPFPLQDLVPLGRLS
RGEQQQQQQQQPPPPPPPPGPVRPLAGPSRKGSFKIRLSRLFRTKSCNGGSGGGDGTGKRPSGELAASAASLTDMGGSAG
RELDAGRKPKLTRTQSAFSPVSFSPLFTGETVSLVDVDISQRGLTSPHPPTPPPPPRRSLSLLDAFPRIAPIRAAESLHS
QPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRME
HYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNGKFLYFLRSRVPGLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLV
RIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLKEAQLISKQKQEVEPST*

Gene Symbol:SOCS7
Accession:NM_014598
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQEAELRDGEAAAAAASYRVLSRLLGYGEAAPEPGPPPPPPGHGPPPPPFLARPGPRGSRPPQLMVFRNVGRPPEEEDVE
AAPEPGPSELLCPRHRCALDPKALPPGLALERTWGPAAGLEAQLAALGLGQPAGPGVKTVGGGCCPCPCPPQPPPPQPQP
PAAAPQAGEDPTETSDALLVLEGLESEAESLETNSCSEEELSSPGRGGGGGGRLLLQPPGPELPPVPFPLQDLVPLGRLS
RGEQQQQQQQQPPPPPPPPGPVRPLAGPSRKGSFKIRLSRLFRTKSCNGGSGGGDGTGKRPSGELAASAASLTDMGGSAG
RELDAGRKPKLTRTQSAFSPVSFSPLFTGETVSLVDVDISQRGLTSPHPPTPPPPPRRSLSLLDDISGTLPTSVLVAPMG
SSLQSFPLPPPPPPHAPDAFPRIAPIRAAESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPMNWEDAEMKLKG
KPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNGKFLYFLRSRVP
GLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLVRIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLKEAQLISKQKQE
VEPST*

Gene Symbol:SOCS7
Accession:XM_017024552
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQEAELRDGEAAAAAASYRVLSRLLGYGEAAPEPGPPPPPPGHGPPPPPFLARPGPRGSRPPQLMVFRNVGRPPEEEDVE
AAPEPGPSELLCPRHRCALDPKALPPGLALERTWGPAAGLEAQLAALGLGQPAGPGVKTVGGGCCPCPCPPQPPPPQPQP
PAAAPQAGEDPTETSDALLVLEGLESEAESLETNSCSEEELSSPGRGGGGGGRLLLQPPGPELPPVPFPLQDLVPLGRLS
RGEQQQQQQQQPPPPPPPPGPVRPLAGPSRKGSFKIRLSRLFRTKSCNGGSGGGDGTGKRPSGELAASAASLTDMGGSAG
RELDAGRKPKLTRTQSAFSPVSFSPLFTDAFPRIAPIRAAESLHSQPPQHLQCPLYRPDSSSFAASLRELEKCGWYWGPM
NWEDAEMKLKGKPDGSFLVRDSSDPRYILSLSFRSQGITHHTRMEHYRGTFSLWCHPKFEDRCQSVVEFIKRAIMHSKNG
KFLYFLRSRVPGLPPTPVQLLYPVSRFSNVKSLQHLCRFRIRQLVRIDHIPDLPLPKPLISYIRKFYYYDPQEEVYLSLK
EAQLISKQKQEVEPST*

Gene Symbol:SOCS7
Accession:XR_007065295
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004134602 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SOCS7 CLINVAR
OMIM 608788 CLINVAR