AutismKB 2.0

Evidence Details for NDUFV2


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Basic Information Top
Gene Symbol:NDUFV2 ( CI-24k )
Gene Full Name: NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Band: 18p11.22
Quick LinksEntrez ID:4729; OMIM: 600532; Uniprot ID:NDUV2_HUMAN; ENSEMBL ID: ENSG00000178127; HGNC ID: 7717
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NDUFV2|4729|nucleotide
ATGTTCTTCTCCGCGGCGCTCCGGGCCCGGGCGGCTGGCCTCACCGCCCACTGGGGAAGACATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGA
GGAGCTTTATTTGTGCACAGAGATACTCCTGAGAATAACCCTGATACTCCATTTGATTTCACACCAGAAAACTATAAGAGGATAGAGGCAATTGTAAAAAACTAT
CCAGAAGGCCATAAAGCAGCAGCTGTTCTTCCAGTCCTGGATTTAGCCCAAAGGCAGAATGGGTGGTTGCCCATCTCTGCTATGAACAAGGTTGCAGAAGTTTTA
CAAGTACCTCCAATGAGAGTATATGAAGTAGCAACTTTTTATACAATGTATAATCGAAAGCCAGTTGGAAAGTATCACATTCAGGTCTGCACTACTACACCCTGC
ATGCTTCGAAACTCTGACAGCATACTGGAGGCCATTCAGAAAAAGCTTGGAATAAAGGTTGGGGAGACTACACCTGACAAACTTTTCACTCTTATAGAAGTGGAA
TGTTTAGGGGCCTGTGTGAACGCACCAATGGTTCAAATAAATGACAATTACTATGAGGATTTGACAGCTAAGGATATTGAAGAAATTATTGATGAGCTCAAGGCT
GGCAAAATCCCAAAACCAGGGCCAAGGAGTGGACGCTTCTCTTGTGAGCCAGCTGGAGGTCTTACCTCTTTGACTGAACCACCCAAGGGACCTGGATTTGGTGTA
CAAGCAGGCCTTTAA



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>NDUFV2|4729|protein
MFFSAALRARAAGLTAHWGRHVRNLHKTVMQNGAGGALFVHRDTPENNPDTPFDFTPENYKRIEAIVKNYPEGHKAAAVLPVLDLAQRQNGWLPISAMNKVAEVL
QVPPMRVYEVATFYTMYNRKPVGKYHIQVCTTTPCMLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLGACVNAPMVQINDNYYEDLTAKDIEEIIDELKA
GKIPKPGPRSGRFSCEPAGGLTSLTEPPKGPGFGVQAGL


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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top