RGD:401864449 Rat Genome Database

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Variant: RGD:401864449 -  Homo sapiens

RGD ID: 401864449
ClinVar ID: CV2760916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM221B  LOC130001733  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 35,826,149
GRCh38 9 35,826,152
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001012446.4:c.10C>T
NG_181179.1:g.156G>A
NC_000009.12:g.35826152G>A
NC_000009.11:g.35826149G>A
More... 		08/02/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FAM221B
Accession:XM_024447542
Location:5UTRS;INTRON

Gene Symbol:FAM221B
Accession:XM_024447541
Location:5UTRS;INTRON

Gene Symbol:FAM221B
Accession:XM_006716768
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEANEIIEEPHITMDAEKHPPSKDPSAEDLQENHISESFLKPSTSETPLEPHTSESPLVPSPSQIPLEAHSPETHQEPSI
SETPSETPTYEASLDSPISVVPEKHLTLPPQSRDYVCLSSSDTLKEDLSSESSSNEVPWTRRSTHLSESESLPEHCLSGP
SSQVQVDTTEKQEEEAGEVEKGVDASDSTAHTAQPGHQLGNTARPVFPARQTELVEVAKAMHREEFGAQVNNLFQWEKDA
ALNAIQTGLYIGWRCPHYLWDCFRIGDESRCFCGHLLREHRIISDISVPCKVSQCRCFMFCFIPSRPEEVGEFWLKRRAT
FDPKAWRAQCRCKHSHEEHAATGPHPCRHHGCCCGCFESNFLCAACDRRWEEHETFFDTQKTRQRGGRPRGEAETWDRGP
FQGL*

Gene Symbol:FAM221B
Accession:XM_047423370
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEANEIIEEPHITMDAEKHPPSKDPSAEDLQENHISESFLKPSTSETPLEPHTSESPLVPSPSQIPLEAHSPETHQEPSI
SETPSETPTYEASLDSPISVVPEKHLTLPPQSRDYVCLSSSDTLKEDLSSESSSNEVPWTRRSTHLSESESLPEHCLSGP
SSQVQVDTTEKQEEEAGEVEKGVDASDSTAHTAQPGHQLGKKKKKKGVSCNTARPVFPARQTELVEVAKAMHREEFGAQV
NNLFQWEKDAALNAIQTGLYIGWRCPHYLWDCFRIGDESRCFCGHLLREHRIISDISVPCKVSQCRCFMFCFIPSRPEEV
GEFWLKRRATFDPKAWRAQCRCKHSHEEHAATGPHPCRHHGCCCGCFESNFLCAACDRRWEEHETFFDTQKTRQRGGRPR
GEAETWDRGPFQGL*

Gene Symbol:FAM221B
Accession:XM_047423371
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEANEIIEEPHITMDAEKHPPSKDPSAEDLQENHISESFLKPSTSETPLEPHTSESPLVPSPSQIPLEAHSPETHQEPSI
SETPSETPTYEASLDSPISVVPEKHLTLPPQSRDYVCLSSSDTLKEDLSSESSSNEVPWTRRSTHLSESESLPEHCLSGP
SSQVQVDTTEKQEEEAGEVEKGVDASDSTAHTAQPGHQLGKKKKKKGVSCNTARPVFPARQTELVEVAKAMHREEFGAQV
NNLFQWEKDAALNAIQTGLYIGWRCPHYLWDCFRIGDESRCFCGHLLREHRIISDISVPCKVSQCRCFMFCFIPSRPEEV
GEFWLKRRATFDPKAWRAQCRCKHSHEEHAATGPHPCRHHGCCCGCFESNFLCAACDRRWEEHETFFDTQKTRQRGGRPR
GEAETWDRGPFQGL*

Gene Symbol:FAM221B
Accession:NM_001012446
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEANEIIEEPHITMDAEKHPPSKDPSAEDLQENHISESFLKPSTSETPLEPHTSESPLVPSPSQIPLEAHSPETHQEPSI
SETPSETPTYEASLDSPISVVPEKHLTLPPQSRDYVCLSSSDTLKEDLSSESSSNEVPWTRRSTHLSESESLPEHCLSGP
SSQVQVDTTEKQEEEAGEVEKGVDASDSTAHTAQPGHQLGNTARPVFPARQTELVEVAKAMHREEFGAQVNNLFQWEKDA
ALNAIQTGLYIGWRCPHYLWDCFRIGDESRCFCGHLLREHRIISDISVPCKVSQCRCFMFCFIPSRPEEVGEFWLKRRAT
FDPKAWRAQCRCKHSHEEHAATGPHPCRHHGCCCGCFESNFLCAACDRRWEEHETFFDTQKTRQRGGRPRGTDTVSNWHR
PL*

Gene Symbol:FAM221B
Accession:NR_052026
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004336548 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FAM221B CLINVAR
  LOC130001733 CLINVAR