Please insert a variant description using the HGVS format.
0 Errors, 0 Warnings.
Raw variant 1: substitution at 1482
GCATCGAGCTGTACCTGAGGAAGCG C CATCATGAGCCCGGGGTGGCGGACC
GCATCGAGCTGTACCTGAGGAAGCG A CATCATGAGCCCGGGGTGGCGGACC
View original variant in UCSC Genome Browser
(Not for use in LSDBs in case of protein-coding transcripts).
NM_022162.1(NOD2_i001):p.(=)
1 MGEEGGSASH DEEERASVLL GHSPGCEMCS QEAFQAQRSQ LVELLVSGSL EGFESVLDWL
61 LSWEVLSWED YEGFHLLGQP LSHLARRLLD TVWNKGTWAC QKLIAAAQEA QADSQSPKLH
121 GCWDPHSLHP ARDLQSHRPA IVRRLHSHVE NMLDLAWERG FVSQYECDEI RLPIFTPSQR
181 ARRLLDLATV KANGLAAFLL QHVQELPVPL ALPLEAATCK KYMAKLRTTV SAQSRFLSTY
241 DGAETLCLED IYTENVLEVW ADVGMAGPPQ KSPATLGLEE LFSTPGHLND DADTVLVVGE
301 AGSGKSTLLQ RLHLLWAAGQ DFQEFLFVFP FSCRQLQCMA KPLSVRTLLF EHCCWPDVGQ
361 EDIFQLLLDH PDRVLLTFDG FDEFKFRFTD RERHCSPTDP TSVQTLLFNL LQGNLLKNAR
421 KVVTSRPAAV SAFLRKYIRT EFNLKGFSEQ GIELYLRKRH HEPGVADRLI RLLQETSALH
481 GLCHLPVFSW MVSKCHQELL LQEGGSPKTT TDMYLLILQH FLLHATPPDS ASQGLGPSLL
541 RGRLPTLLHL GRLALWGLGM CCYVFSAQQL QAAQVSPDDI SLGFLVRAKG VVPGSTAPLE
601 FLHITFQCFF AAFYLALSAD VPPALLRHLF NCGRPGNSPM ARLLPTMCIQ ASEGKDSSVA
661 ALLQKAEPHN LQITAAFLAG LLSREHWGLL AECQTSEKAL LRRQACARWC LARSLRKHFH
721 SIPPAAPGEA KSVHAMPGFI WLIRSLYEMQ EERLARKAAR GLNVGHLKLT FCSVGPTECA
781 ALAFVLQHLR RPVALQLDYN SVGDIGVEQL LPCLGVCKAL YLRDNNISDR GICKLIECAL
841 HCEQLQKLAL FNNKLTDGCA HSMAKLLACR QNFLALRLGN NYITAAGAQV LAEGLRGNTS
901 LQFLGFWGNR VGDEGAQALA EALGDHQSLR WLSLVGNNIG SVGAQALALM LAKNVMLEEL
961 CLEENHLQDE GVCSLAEGLK KNSSLKILKL SNNCITYLGA EALLQALERN DTILEVWLRG
1021 NTFSLEEVDK LGCRDTRLLL *
No change: predicted protein (not shown) equals reference protein.
Raw variant | Created | Deleted |
---|---|---|
1 | BccI, HaeII, HhaI, HinP1I |
Genomic description: 1482C>A
Number | Start (g.) | Stop (g.) | Start (c.) | Stop (c.) |
---|---|---|---|---|
1 | 106 | 3228 | 1 | 3123 |
g. | c. | |
---|---|---|
Start | 106 | 1 |
Stop | 3228 | 3123 |
Download this reference sequence file: NM_022162.1.gb
Name | ID | Locus tag | Product | Link method |
---|---|---|---|---|
NOD2_v001 | NM_022162.1 | construction | ||
NOD2_i001 | NP_071445.1 | nucleotide-binding oligomerization domain-containing protein 2 | construction |
Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.