RGD:8630237 Rat Genome Database

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Variant: RGD:8630237 -  Homo sapiens

RGD ID: 8630237
ClinVar ID: CV85384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HTR2B  PSMD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 231,988,226
GRCh38 2 231,123,512
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002807.3:c.1884-15224G>A
NM_001191037.1:c.1884-15224G>A
NM_000867.4:c.253C>T
NC_000002.12:g.231123512G>A
More...
synonymous variant|intron|intron variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:HTR2B
Accession:XM_005246520
Location:5UTRS;INTRON

Gene Symbol:HTR2B
Accession:NM_000867
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSYRVSELQSTIPEHILQSTFVHVISSNWSGLQTESIPEEMKQIVEEQGNKLHWAALLILMVIIPTIGGNTLVILAVS
LEKKMQYATNYFLMSLAVADLLVGLFVMPIALLTIMFEAMWPLPLVLCPAWLFLDVLFSTASIMHLCAISVDRYIAIKKP
IQANQYNSRATAFIKITVVWLISIGIAIPVPIKGIETDVDNPNNITCVLTKERFGDFMLFGSLAAFFTPLAIMIVTYFLT
IHALQKKAYLVKNKPPQRLTWLTVSTVFQRDETPCSSPEKVAMLDGSRKDKALPNSGDETLMRRTSTIGKKSVQTISNEQ
RASKVLGIVFFLFLLMWCPFFITNITLVLCDSCNQTTLQMLLEIFVWIGYVSSGVNPLVYTLFNKTFRDAFGRYITCNYR
ATKSVKTLRKRSSKIYFRNPMAENSKFFKKHGIRNGINPAMYQSPMRLRSSTIQSSSIILLDTLLLTENEGDKTEEQVSY
V*

Gene Symbol:HTR2B
Accession:XM_006712482
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKITTKPETESIPEEMKQIVEEQGNKLHWAALLILMVIIPTIGGNTLVILAVSLEKKMQYATNYFLMSLAVADLLVGL
FVMPIALLTIMFEAMWPLPLVLCPAWLFLDVLFSTASIMHLCAISVDRYIAIKKPIQANQYNSRATAFIKITVVWLISIG
IAIPVPIKGIETDVDNPNNITCVLTKERFGDFMLFGSLAAFFTPLAIMIVTYFLTIHALQKKAYLVKNKPPQRLTWLTVS
TVFQRDETPCSSPEKVAMLDGSRKDKALPNSGDETLMRRTSTIGKKSVQTISNEQRASKVLGIVFFLFLLMWCPFFITNI
TLVLCDSCNQTTLQMLLEIFVWIGYVSSGVNPLVYTLFNKTFRDAFGRYITCNYRATKSVKTLRKRSSKIYFRNPMAENS
KFFKKHGIRNGINPAMYQSPMRLRSSTIQSSSIILLDTLLLTENEGDKTEEQVSYV*

Gene Symbol:HTR2B
Accession:NM_001320758
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQIVEEQGNKLHWAALLILMVIIPTIGGNTLVILAVSLEKKMQYATNYFLMSLAVADLLVGLFVMPIALLTIMFEAMWP
LPLVLCPAWLFLDVLFSTASIMHLCAISVDRYIAIKKPIQANQYNSRATAFIKITVVWLISIGIAIPVPIKGIETDVDNP
NNITCVLTKERFGDFMLFGSLAAFFTPLAIMIVTYFLTIHALQKKAYLVKNKPPQRLTWLTVSTVFQRDETPCSSPEKVA
MLDGSRKDKALPNSGDETLMRRTSTIGKKSVQTISNEQRASKVLGIVFFLFLLMWCPFFITNITLVLCDSCNQTTLQMLL
EIFVWIGYVSSGVNPLVYTLFNKTFRDAFGRYITCNYRATKSVKTLRKRSSKIYFRNPMAENSKFFKKHGIRNGINPAMY
QSPMRLRSSTIQSSSIILLDTLLLTENEGDKTEEQVSYV*

Gene Symbol:HTR2B
Accession:XM_047444114
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSYRVSELQSTIPEHILQSTFVHVISSNWSGLQTESIPEEMKQIVEEQGNKLHWAALLILMVIIPTIGGNTLVILAVS
LEKKMQYATNYFLMSLAVADLLVGLFVMPIALLTIMFEAMWPLPLVLCPAWLFLDVLFSTASIMHLCAISVDRYIAIKKP
IQANQYNSRATAFIKITVVWLISIGIAIPVPIKGIETDVDNPNNITCVLTKERFGDFMLFGSLAAFFTPLAIMIVTYFLT
IHALQKKAYLVKNKPPQRLTWLTVSTVFQRDETPCSSPEKVAMLDGSRKDKALPNSGDETLMRRTSTIGKKSVQTISNEQ
RASKVLGIVFFLFLLMWCPFFITNITLVLCDSCNQTTLQMLLEIFVWIGYVSSGVNPLVYTLFNKTFRDAFGRYITCNYR
ATKSVKTLRKRSSKIYFRNPMAENSKFFKKHGIRNGINPAMYQSPMRLRSSTIQSSSIILLDTLLLTENEGDKTEEQVSY
V*

Gene Symbol:PSMD1
Accession:NM_002807
Location:INTRON

Gene Symbol:PSMD1
Accession:NM_001191037
Location:INTRON

Gene Symbol:PSMD1
Accession:XM_017004517
Location:INTRON

Gene Symbol:PSMD1
Accession:NR_034059
Location:INTRON;NON-CODING

Variant Samples