RGD:156281696 Rat Genome Database

Variant: RGD:156281696 - Homo sapiens

RGD ID:

156281696

ClinVar ID:

CV2348798

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SLC28A1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	15	85,448,778
GRCh38	15	84,905,547

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001287762.2:c.612G>C NM_001321721.2:c.612G>C NM_001321722.2:c.612G>C NM_004213.5:c.612G>C More...	11/07/2022	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SLC28A1
Accession:	NM_004213
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCR FYNHTICAQ*

Gene Symbol:	SLC28A1
Accession:	NM_001287762
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCR FYNHTICAQ*

Gene Symbol:	SLC28A1
Accession:	NM_001287761
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQRKSDFS QIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTI CAQ*

Gene Symbol:	SLC28A1
Accession:	XM_011522208
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	195

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCCVPGFPLDADRNKAGRSGTWRTTPRDEESPSLSHLWPRVWRTWGLISWKAWRNLQPALRARSFCREHMQLFRWIGTGL LCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAAFLGLVLWLS LDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRIFLSYTKAGS SFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQTEAPLLIRPY LADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQN LIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWEDCPVVAELL GIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQRKSDFSQIV LRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEARTQHGGTHFSST SKKAVTHRSRLPTRWTHEMLLHTLLHVSKFLASNDSMCFSDGP*

Gene Symbol:	SLC28A1
Accession:	XM_011522204
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEARTQ HGGTHFSSTSKKAVTHRSRLPTRWTHEMLLHTLLHVSKFLASNDSMCFSDGP*

Gene Symbol:	SLC28A1
Accession:	XM_011522205
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEARTQ HGGTHFSSTSKKAVTHRSRLPTRWTHEMLLHTLLHVSKFLASNDSMCFSDGP*

Gene Symbol:	SLC28A1
Accession:	XM_011522206
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEARTQ HGGTHFSSTSKKAVTHRSRLPTRWTHEMLLHTLLHVSKFLASNDSMCFSDGP*

Gene Symbol:	SLC28A1
Accession:	XM_011522203
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEARTQ HGGTHFSSTSKKAVTHRSRLPTRWTHEMLLHTLLHVSKFLASNDSMCFSDGP*

Gene Symbol:	SLC28A1
Accession:	XM_011522215
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQRKSDFS QIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEARTQHGGTHF SSTSKKAVTHRSRLPTRWTHEMLLHTLLHVSKFLASNDSMCFSDGP*

Gene Symbol:	SLC28A1
Accession:	XM_011522209
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRV LPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQTEAPLLIRPYLADMTLSEVHVVMTGGY ATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGVKLTYGDAQNLIEAASTGAAISVKVVA NIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWEDCPVVAELLGIKLFLNEFVAYQDLSK YKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQRKSDFSQIVLRALFTGACVSLVNACM AGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEARTQHGGTHFSSTSKKAVTHRSRLPTRWTH EMLLHTLLHVSKFLASNDSMCFSDGP*

Gene Symbol:	SLC28A1
Accession:	XM_011522212
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISLECRWEGEQAWTMKTKATPERWSSFKLKGA*

Gene Symbol:	SLC28A1
Accession:	XM_011522210
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEARTQ HVGMQMGR*

Gene Symbol:	SLC28A1
Accession:	XM_011522217
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQRKSDFS QIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQSVNPEFSPEALDNCCRFYNHTI CAQ*

Gene Symbol:	SLC28A1
Accession:	XM_011522214
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISIISAAFPGVG*

Gene Symbol:	SLC28A1
Accession:	XM_011522218
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGLEKL*

Gene Symbol:	SLC28A1
Accession:	XM_011522216
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	126

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQLFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLAL AAFLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQI RIFLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVS QTEAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREE GVKLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVA WEDCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMV PQRKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEAR TQHGGTHFSSTSKKAVTHRSRLPTRWTHEMLLHTLLHVSKFLASNDSMCFSDGP*

Gene Symbol:	SLC28A1
Accession:	NM_001321722
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRIFKSTPAESQP*

Gene Symbol:	SLC28A1
Accession:	NM_001321721
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISRRGLAMLTRLVLNSWP*

Gene Symbol:	SLC28A1
Accession:	XM_017022723
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRWDSFLIYK*

Gene Symbol:	SLC28A1
Accession:	XM_047433322
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGRCSEPHRSSQHWGRHLREGGRQHRCQPDCVPGCAGLYQC CPLLAGRHGGHPRAQLPAHLLLHPAACSLLDGCGVGGLPSGS*

Gene Symbol:	SLC28A1
Accession:	XM_047433320
Location:	EXON
Amino Acid Prediction:	W to C (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MENDPSRRRESISLTPVAKGLENMGADFLESLEEGQLPRSDLSPAEIRSSWSEAAPKPFSRWRNLQPALRARSFCREHMQ LFRWIGTGLLCTGLSAFLLVACLLDFQRALALFVLTCVVLTFLGHRLLKRLLGPKLRRFLKPQGHPRLLLWFKRGLALAA FLGLVLWLSLDTSQRPEQLVSFAGICVFVALLFACSKHHCAVSCRAVSWGLGLQFVLGLLVIRTEPGFIAFEWLGEQIRI FLSYTKAGSSFVFGEALVKDVFAFQVLPIIVFFSCVISVLYHVGLMQWVILKIAWLMQVTMGTTATETLSVAGNIFVSQT EAPLLIRPYLADMTLSEVHVVMTGGYATIAGSLLGAYISFGIDATSLIAASVMAAPCALALSKLVYPEVEESKFRREEGV KLTYGDAQNLIEAASTGAAISVKVVANIAANLIAFLAVLDFINAALSWLGDMVDIQGLSFQLICSYILRPVAFLMGVAWE DCPVVAELLGIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRAEVLTTFALCGFANFSSIGIMLGGLTSMVPQ RKSDFSQIVLRALFTGACVSLVNACMAGILYMPRGAEVDCMSLLNTTLSSSSFEIYQCCREAFQRQCMSQEQVEDEARTQ HGGTHFSSTSKKAVTHRSRLPTRWTHEMLLHTLLHVSKFLASNDSMCFSDGP*

Gene Symbol:	SLC28A1
Accession:	XR_931945
Location:	EXON;NON-CODING

Gene Symbol:	SLC28A1
Accession:	NM_201651
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002989423	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	SLC28A1	CLINVAR
OMIM	606207	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:156281696 - Homo sapiens

Imported Disease Annotations - ClinVar