RGD:15146934 Rat Genome Database

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Variant: RGD:15146934 -  Homo sapiens

RGD ID: 15146934
RS ID: rs148344927
ClinVar ID: CV735292
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERAP1  ERAP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 96,232,099
GRCh38 5 96,896,395
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022350.4:c.1262G>A
NM_001329229.1:c.1127G>A
NM_022350.5:c.1262G>A
NG_027839.2:g.44589C>T
More... 		08/01/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ERAP1
Accession:XM_011543484
Location:5UTRS;INTRON

Gene Symbol:ERAP1
Accession:XM_017009581
Location:5UTRS;INTRON

Gene Symbol:ERAP1
Accession:XM_011543485
Location:5UTRS;INTRON

Gene Symbol:ERAP1
Accession:XM_011543486
Location:5UTRS;INTRON

Gene Symbol:ERAP1
Accession:XM_047417310
Location:5UTRS;INTRON

Gene Symbol:ERAP2
Accession:NM_022350
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 421
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGERFPWQELRLPSVVIPLHYDL
FVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNATLQSEEDSRYMKPGKELKVLSYPAHEQIALLVPEKLTPHL
KYYVAMDFQAKLGDGFEGFYKSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIRRESRHIALSNMPKVK
TIELEGGLLEDHFETTVKMSTYLVAYIVCDFHSLSGFTSSGVKVSIYASPDKRNQTHYALQASLKLLDFYEKYFDIYYPL
SKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASDKLWVTRVIAHELAHQWFGNLVTMEWWNDIWLKEGFAKYME
LIAVNATYPELQFDDYFLNVYFEVITKDSLNSSRPISKPAETPTQIQEMFDEVSYNKGACILNMLKDFLGEEKFQKGIIQ
YLKKFSYRNAKNDDLWSSLSNSCLESDFTSGGVCHSDPKMTSNMLAFLGENAEVKEMMTTWTLQKGIPLLVVKQDGCSLR
LQQERFLQGVFQEDPEWRALQERYLWHIPLTYSTSSSNVIHRHILKSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGW
DQLITQLNQNHTLLRPKDRVGLIHDVFQLVGAGRLTLDKALDMTYYLQHETSSPALLEGLSYLESFYHMMDRRNISDISE
NLKRYLLQYFKPVIDRQSWSDKGSVWDRMLRSALLKLACDLNHAPCIQKAAELFSQWMESSGKLNIPTDVLKIVYSVGAQ
TTAGWNYLLEQYELSMSSAEQNKILYALSTSKHQEKLLKLIELGMEGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENW
THLLKKFDLGSYDIRMIISGTTAHFSSKDKLQEVKLFFESLEAQGSHLDIFQTVLETITKNIKWLEKNLPTLRTWLMVNT
*

Gene Symbol:ERAP2
Accession:XM_011543544
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 421
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGERFPWQELRLPSVVIPLHYDL
FVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNATLQSEEDSRYMKPGKELKVLSYPAHEQIALLVPEKLTPHL
KYYVAMDFQAKLGDGFEGFYKSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIRRESRHIALSNMPKVK
TIELEGGLLEDHFETTVKMSTYLVAYIVCDFHSLSGFTSSGVKVSIYASPDKRNQTHYALQASLKLLDFYEKYFDIYYPL
SKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASDKLWVTRVIAHELAHQWFGNLVTMEWWNDIWLKEGFAKYME
LIAVNATYPELQFDDYFLNVYFEVITKDSLNSSRPISKPAETPTQIQEMFDEVSYNKGACILNMLKDFLGEEKFQKGIIQ
YLKKFSYRNAKNDDLWSSLSNLAFLGENAEVKEMMTTWTLQKGIPLLVVKQDGCSLRLQQERFLQGVFQEDPEWRALQER
YLWHIPLTYSTSSSNVIHRHILKSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGWDQLITQLNQNHTLLRPKDRVGLI
HDVFQLVGAGRLTLDKALDMTYYLQHETSSPALLEGLSYLESFYHMMDRRNISDISENLKRYLLQYFKPVIDRQSWSDKG
SVWDRMLRSALLKLACDLNHAPCIQKAAELFSQWMESSGKLNIPTDVLKIVYSVGAQTTAGWNYLLEQYELSMSSAEQNK
ILYALSTSKHQEKLLKLIELGMEGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENWTHLLKKFDLGSYDIRMIISGTTA
HFSSKDKLQEVKLFFESLEAQGSHLDIFQTVLETITKNIKWLEKNLPTLRTWLMVNT*

Gene Symbol:ERAP2
Accession:XM_047417490
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 421
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGERFPWQELRLPSVVIPLHYDL
FVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNATLQSEEDSRYMKPGKELKVLSYPAHEQIALLVPEKLTPHL
KYYVAMDFQAKLGDGFEGFYKSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIRRESRHIALSNMPKVK
TIELEGGLLEDHFETTVKMSTYLVAYIVCDFHSLSGFTSSGVKVSIYASPDKRNQTHYALQASLKLLDFYEKYFDIYYPL
SKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASDKLWVTRVIAHELAHQWFGNLVTMEWWNDIWLKEGFAKYME
LIAVNATYPELQFDDYFLNVYFEVITKDSLNSSRPISKPAETPTQIQEMFDEVSYNKGACILNMLKDFLGEEKFQKGIIQ
YLKKFSYRNAKNDDLWSSLSNLAFLGENAEVKEMMTTWTLQKGIPLLVVKQDGCSLRLQQERFLQGVFQEDPEWRALQER
YLWHIPLTYSTSSSNVIHRHILKSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGWDQLITQLNQNHTLLRPKDRVGLI
HDVFQLVGAGRLTLDKALDMTYYLQHETSSPALLEGLSYLESFYHMMDRRNISDISENLKRYLLQYFKPVIDRQSWSDKG
SVWDRMLRSALLKLACDLNHAPCIQKAAELFSQWMESSGKLNIPTDVLKIVYSVGAQTTAGWNYLLEQYELSMSSAEQNK
ILYALSTSKHQEKLLKLIELGMEGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENWTHLLKKFDLGSYDIRMIISGTTA
HFSSKDKLQEVKLFFESLEAQGSHLDIFQTVLETITKNIKWLEKNLPTLRTWLMVNT*

Gene Symbol:ERAP2
Accession:NM_001329229
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 376
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGERFPWQELRLPSVVIPLHYDL
FVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNATLQSEEDSRYMKPGKELKVLSYPAHEQIALLVPEKLTPHL
KYYVAMDFQAKLGDGFEGFYKSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIRRESRHIALSNMPKVS
IYASPDKRNQTHYALQASLKLLDFYEKYFDIYYPLSKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASDKLWVT
RVIAHELAHQWFGNLVTMEWWNDIWLKEGFAKYMELIAVNATYPELQFDDYFLNVYFEVITKDSLNSSRPISKPAETPTQ
IQEMFDEVSYNKGACILNMLKDFLGEEKFQKGIIQYLKKFSYRNAKNDDLWSSLSNSCLESDFTSGGVCHSDPKMTSNML
AFLGENAEVKEMMTTWTLQKGIPLLVVKQDGCSLRLQQERFLQGVFQEDPEWRALQERYLWHIPLTYSTSSSNVIHRHIL
KSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGWDQLITQLNQNHTLLRPKDRVGLIHDVFQLVGAGRLTLDKALDMTY
YLQHETSSPALLEGLSYLESFYHMMDRRNISDISENLKRYLLQYFKPVIDRQSWSDKGSVWDRMLRSALLKLACDLNHAP
CIQKAAELFSQWMESSGKLNIPTDVLKIVYSVGAQTTAGWNYLLEQYELSMSSAEQNKILYALSTSKHQEKLLKLIELGM
EGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENWTHLLKKFDLGSYDIRMIISGTTAHFSSKDKLQEVKLFFESLEAQG
SHLDIFQTVLETITKNIKWLEKNLPTLRTWLMVNT*

Gene Symbol:ERAP2
Accession:NM_001130140
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 421
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHSSAMVNSHRKPMFNIHRGFYCLTAILPQICICSQFSVPSSYHFTEDPGAFPVATNGERFPWQELRLPSVVIPLHYDL
FVHPNLTSLDFVASEKIEVLVSNATQFIILHSKDLEITNATLQSEEDSRYMKPGKELKVLSYPAHEQIALLVPEKLTPHL
KYYVAMDFQAKLGDGFEGFYKSTYRTLGGETRILAVTDFEPTQARMAFPCFDEPLFKANFSIKIRRESRHIALSNMPKVK
TIELEGGLLEDHFETTVKMSTYLVAYIVCDFHSLSGFTSSGVKVSIYASPDKRNQTHYALQASLKLLDFYEKYFDIYYPL
SKLDLIAIPDFAPGAMENWGLITYRETSLLFDPKTSSASDKLWVTRVIAHELAHQWFGNLVTMEWWNDIWLKEGFAKYME
LIAVNATYPELQFDDYFLNVYFEVITKDSLNSSRPISKPAETPTQIQEMFDEVSYNKGACILNMLKDFLGEEKFQKGIIQ
YLKKFSYRNAKNDDLWSSLSNSCLESDFTSGGVCHSDPKMTSNMLAFLGENAEVKEMMTTWTLQKGIPLLVVKQDGCSLR
LQQERFLQGVFQEDPEWRALQERYLWHIPLTYSTSSSNVIHRHILKSKTDTLDLPEKTSWVKFNVDSNGYYIVHYEGHGW
DQLITQLNQNHTLLRPKDRVGLIHDVFQLVGAGRLTLDKALDMTYYLQHETSSPALLEGLSYLESFYHMMDRRNISDISE
NLKRYLLQYFKPVIDRQSWSDKGSVWDRMLRSALLKLACDLNHAPCIQKAAELFSQWMESSGKLNIPTDVLKIVYSVGAQ
TTAGWNYLLEQYELSMSSAEQNKILYALSTSKHQEKLLKLIELGMEGKVIKTQNLAALLHAIARRPKGQQLAWDFVRENW
THLLKKFDLGSYDIRMIISGTTAHFSSKDKLQEVKLFFESLEAQGSHLDIFQTVLETITKNIKWLEKNLPTLRTWLMVNT
*

Gene Symbol:ERAP2
Accession:NR_137637
Location:EXON;NON-CODING

Gene Symbol:ERAP1
Accession:NM_016442
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_047417307
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_047417311
Location:INTRON

Gene Symbol:ERAP1
Accession:NM_001198541
Location:INTRON

Gene Symbol:ERAP1
Accession:NM_001040458
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_047417305
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_005272015
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_017009583
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_047417308
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_047417306
Location:INTRON

Gene Symbol:ERAP2
Accession:NM_001329233
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_005272016
Location:INTRON

Gene Symbol:ERAP1
Accession:NM_001349244
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_047417309
Location:INTRON

Gene Symbol:ERAP1
Accession:XM_047417312
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000900412 CLINVAR
dbSNP (RS) rs148344927 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ERAP1 CLINVAR
  ERAP2 CLINVAR
OMIM 606832 CLINVAR
  609497 CLINVAR