Name Checker

Please insert a variant description using the HGVS format.

Examples: AB026906.1:c.40_42del, NG_012337.1(SDHD_v001):c.274G>T, LRG_24t1:c.159dup

Help

0 Errors, 0 Warnings.

Overview of the raw variants

Raw variant 1: substitution at 1482

GCATCGAGCTGTACCTGAGGAAGCG C CATCATGAGCCCGGGGTGGCGGACC
GCATCGAGCTGTACCTGAGGAAGCG A CATCATGAGCCCGGGGTGGCGGACC

View original variant in UCSC Genome Browser

Description relative to transcription start

(Not for use in LSDBs in case of protein-coding transcripts).

NM_022162.1:n.1482C>A

Affected transcripts - 1

NM_022162.1(NOD2_v001):c.1377C>A

Affected proteins - 1

NM_022162.1(NOD2_i001):p.(=)

Reference protein

   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 *

Protein predicted from variant coding sequence

No change: predicted protein (not shown) equals reference protein.

Effects on Restriction sites

Raw variant Created Deleted
1 BccI, HaeII, HhaI, HinP1I

Experimental services

Genomic description: 1482C>A

Exon information

Number Start (g.) Stop (g.) Start (c.) Stop (c.)
1 106 3228 1 3123

CDS information

g. c.
Start 106 1
Stop 3228 3123

Links

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.