RGD:329399899 Rat Genome Database

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Variant: RGD:329399899 -  Homo sapiens

RGD ID: 329399899
ClinVar ID: CV2444349
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSSK4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 24,676,368
GRCh38 14 24,207,162
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308067.2:c.229A>C
NM_174944.4:c.457A>C
NM_001184739.2:c.487A>C
NC_000014.9:g.24207162A>C
More... 		02/22/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSSK4
Accession:NM_174944
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 153
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKGDVLEAAPTTTAYHSLMDEYGYEVGKAIGHGSYGSVYEAFYTKQKVMVAVKIISKKKASDDYLNKFLPREIQVMKVL
RHKYLINFYRAIESTSRVYIILELAQGGDVLEWIQRYGACSEPLAGKWFSQLTLGIAYLHSKSIVHRDLKLEHLLLDKWE
NVKISDFGFAKMVPSNQPVGCSPSYRQVNCFSHLSQTYCGSFAYACPEILRGLPYNPFLSDTWSMGVILYTLVVAHLPFD
DTNLKKLLRETQKEVTFPANHTISQECKNLILQMLRQATKRATILDIIKDSWVLKFQPEQPTHEIRLLEAMCQLHNTTKQ
HQSLQITT*

Gene Symbol:TSSK4
Accession:NM_001184739
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKGDVLEAAPTTTAYHSLMDEYGYEVGKAIGHGSYGSVYEAFYTKQKVMVAVKIISKKKASDDYLNKFLPREIQVMKVL
RHKYLINFYRAIESTSRVYIILELAQGGDVLEWIQRYGACSEPLAGKWFSQLTLGIAYLHSKSIVHRLMPSLSAAGRDLK
LEHLLLDKWENVKISDFGFAKMVPSNQPVGCSPSYRQVNCFSHLSQTYCGSFAYACPEILRGLPYNPFLSDTWSMGVILY
TLVVAHLPFDDTNLKKLLRETQKEVTFPANHTISQECKNLILQMLRQATKRATILDIIKDSWVLKFQPEQPTHEIRLLEA
MCQLHNTTKQHQSLQITT*

Gene Symbol:TSSK4
Accession:XM_011536663
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKVLRHKYLINFYRAIESTSRVYIILELAQGGDVLEWIQRYGACSEPLAGKWFSQLTLGIAYLHSKSIVHRLMPSLSAAG
RDLKLEHLLLDKWENVKISDFGFAKMVPSNQPVGCSPSYRQVNCFSHLSQTYCGSFAYACPEILRGLPYNPFLSDTWSMG
VILYTLVVAHLPFDDTNLKKLLRETQKEVTFPANHTISQECKNLILQMLRQATKRATILDIIKDSWVLKFQPEQPTHEIR
LLEAMCQLHNTTKQHQSLQITT*

Gene Symbol:TSSK4
Accession:NM_001308067
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKVLRHKYLINFYRAIESTSRVYIILELAQGGDVLEWIQRYGACSEPLAGKWFSQLTLGIAYLHSKSIVHRDLKLEHLLL
DKWENVKISDFGFAKMVPSNQPVGCSPSYRQVNCFSHLSQTYCGSFAYACPEILRGLPYNPFLSDTWSMGVILYTLVVAH
LPFDDTNLKKLLRETQKEVTFPANHTISQECKNLILQMLRQATKRATILDIIKDSWVLKFQPEQPTHEIRLLEAMCQLHN
TTKQHQSLQITT*

Gene Symbol:TSSK4
Accession:XM_024449542
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKGDVLEAAPTTTAYHSLMDEYGYEVGKAIGHGSYGSVYEAFYTKQKVMVAVKIISKKKASDDYLNKFLPREIQVMKVL
RHKYLINFYRAIESTSRVYIILELAQGGDVLEWIQRYGACSEPLAGKWFSQLTLGIAYLHSKSIVHRLMPSLSAAGRDLK
LEHLLLDKWENVKISDFGFAKMVPSNQPVGCSPSYRQVNCFSHLSQTYCGSFAYACPEILRGLPYNPFLSDTWSMGVILY
TLVVAHLPFDDTNLKKLLRETQKEVTFPANHTISQECKVQLLIACVAQWRKTQARPLSPLL*NLILQMLRQATKRATILD
IIKDSWVLKFQPEQPTHEIRLLEAMCQLHNTTKQHQSLQITT*KWLREGAKRGAKQEVLG*KSFLPKINLSLI*FHQ
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003196932 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene TSSK4 CLINVAR
OMIM 610711 CLINVAR