RGD:15179875 Rat Genome Database

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Variant: RGD:15179875 -  Homo sapiens

RGD ID: 15179875
RS ID: rs111838477
ClinVar ID: CV713323
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM222A  FAM222A-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 110,206,871
GRCh38 12 109,769,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032829.3:c.1137G>A
NC_000012.12:g.109769066G>A
NC_000012.11:g.110206871G>A
NM_032829.2:c.1137G>A
More... 		07/15/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FAM222A
Accession:XM_024449229
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHSSRYPSPAELDAYAEKVANSPLSIKIFPTNIRVPQHKHLSRTVNGYDTSGQRYSPYPQHTAGYQGLLAIVKAAVSSSS
TAAPAGPAKSVLKSAEGKRTKLSPAAVQVGIAPYPVPSTLGPLAYPKPPEAPAPPPGLPAAATAASVIPLPGRGLPLPPS
NLPSIHSLLYQLNQQCQAPGAAPPACQGMAIPHPSPAKHGPVPSFPSMAYSAAAGLPDCRKGTELGQGATQALTLAGAAK
PAGYADSGLDYLLWPQKPPPPPPQPLRAYSGSTVASKSPEACGGRAYERASGSPLNCGVGLPTSFTVGQYFAAPWNSVLV
TPTSDCYNPAAAVVVTELGPGAARELAGPPADALSGLPSKSVCNTSVLSSSLQSLEYLINDIRPPCIKEQMLGKGYETVA
VPRLLDHQHAHIRLPVYR*

Gene Symbol:FAM222A
Accession:XM_047429748
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLACLQRTQNAPGQHLACPSKSLELRKCEAVASAMHSSRYPSPAELDAYAEKVANSPLSIKIFPTNIRVPQHKHLSRTVN
GYDTSGQRYSPYPQHTAGYQGLLAIVKAAVSSSSTAAPAGPAKSVLKSAEGKRTKLSPAAVQVGIAPYPVPSTLGPLAYP
KPPEAPAPPPGLPAAATAASVIPLPGRGLPLPPSNLPSIHSLLYQLNQQCQAPGAAPPACQGMAIPHPSPAKHGPVPSFP
SMAYSAAAGLPDCRKGTELGQGATQALTLAGAAKPAGYADSGLDYLLWPQKPPPPPPQPLRAYSGSTVASKSPEACGGRA
YERASGSPLNCGVGLPTSFTVGQYFAAPWNSVLVTPTSDCYNPAAAVVVTELGPGAARELAGPPADALSGLPSKSVCNTS
VLSSSLQSLEYLINDIRPPCIKEQMLGKGYETVAVPRLLDHQHAHIRLPVYR*

Gene Symbol:FAM222A
Accession:NM_032829
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLACLQRTQNAPGQHLACPSKSLELRKCEAVASAMHSSRYPSPAELDAYAEKVANSPLSIKIFPTNIRVPQHKHLSRTVN
GYDTSGQRYSPYPQHTAGYQGLLAIVKAAVSSSSTAAPAGPAKSVLKSAEGKRTKLSPAAVQVGIAPYPVPSTLGPLAYP
KPPEAPAPPPGLPAAATAASVIPLPGRGLPLPPSNLPSIHSLLYQLNQQCQAPGAAPPACQGMAIPHPSPAKHGPVPSFP
SMAYSAAAGLPDCRKGTELGQGATQALTLAGAAKPAGYADSGLDYLLWPQKPPPPPPQPLRAYSGSTVASKSPEACGGRA
YERASGSPLNCGVGLPTSFTVGQYFAAPWNSVLVTPTSDCYNPAAAVVVTELGPGAARELAGPPADALSGLPSKSVCNTS
VLSSSLQSLEYLINDIRPPCIKEQMLGKGYETVAVPRLLDHQHAHIRLPVYR*

Gene Symbol:FAM222A
Accession:XM_017020055
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLACLQRTQNAPGQHLACPSKSLELRKCEAVASAMHSSRYPSPAELDAYAEKVANSPLSIKIFPTNIRVPQHKHLSRTVN
GYDTSGQRYSPYPQHTAGYQGLLAIVKAAVSSSSTAAPAGPAKSVLKSAEGKRTKLSPAAVQVGIAPYPVPSTLGPLAYP
KPPEAPAPPPGLPAAATAASVIPLPGRGLPLPPSNLPSIHSLLYQLNQQCQAPGAAPPACQGMAIPHPSPAKHGPVPSFP
SMAYSAAAGLPDCRKGTELGQGATQALTLAGAAKPAGYADSGLDYLLWPQKPPPPPPQPLRAYSGSTVASKSPEACGGRA
YERASGSPLNCGVGLPTSFTVGQYFAAPWNSVLVTPTSDCYNPAAAVVVTELGPGAARELAGPPADALSGLPSKSVCNTS
VLSSSLQSLEYLINDIRPPCIKEQMLGKGYETVAVPRLLDHQHAHIRLPVYR*

Gene Symbol:FAM222A
Accession:XM_047429749
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLACLQRTQNAPGQHLACPSKSLELRKCEAVASAMHSSRYPSPAELDAYAEKVANSPLSIKIFPTNIRVPQHKHLSRTVN
GYDTSGQRYSPYPQHTAGYQGLLAIVKAAVSSSSTAAPAGPAKSVLKSAEGKRTKLSPAAVQVGIAPYPVPSTLGPLAYP
KPPEAPAPPPGLPAAATAASVIPLPGRGLPLPPSNLPSIHSLLYQLNQQCQAPGAAPPACQGMAIPHPSPAKHGPVPSFP
SMAYSAAAGLPDCRKGTELGQGATQALTLAGAAKPAGYADSGLDYLLWPQKPPPPPPQPLRAYSGSTVASKSPEACGGRA
YERASGSPLNCGVGLPTSFTVGQYFAAPWNSVLVTPTSDCYNPAAAVVVTELGPGAARELAGPPADALSGLPSKSVCNTS
VLSSSLQSLEYLINDIRPPCIKEQMLGKGYETVAVPRLLDHQHAHIRLPVYR*

Gene Symbol:FAM222A-AS1
Accession:NR_026661
Location:INTRON;NON-CODING

Gene Symbol:FAM222A-AS1
Accession:NR_026662
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000974015 CLINVAR
dbSNP (RS) rs111838477 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FAM222A CLINVAR
  FAM222A-AS1 CLINVAR