AutismKB 2.0

Evidence Details for KCNMB2


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Basic Information Top
Gene Symbol:KCNMB2 ( MGC22431 )
Gene Full Name: potassium large conductance calcium-activated channel, subfamily M, beta member 2
Band: 3q26.32
Quick LinksEntrez ID:10242; OMIM: 605214; Uniprot ID:KCMB2_HUMAN; ENSEMBL ID: ENSG00000197584; HGNC ID: 6286
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KCNMB2|10242|nucleotide
ATGTTTATATGGACCAGTGGCCGGACCTCTTCATCTTATAGACATGATGAAAAAAGAAATATTTACCAGAAAATCAGGGACCATGACCTCCTGGACAAAAGGAAA
ACAGTCACAGCACTGAAGGCAGGAGAGGACCGAGCTATTCTCCTGGGACTGGCTATGATGGTGTGCTCCATCATGATGTATTTTCTGCTGGGAATCACACTCCTG
CGCTCATACATGCAGAGCGTGTGGACCGAAGAGTCTCAATGCACCTTGCTGAATGCGTCCATCACGGAAACATTTAATTGCTCCTTCAGCTGTGGTCCAGACTGC
TGGAAACTTTCTCAGTACCCCTGCCTCCAGGTGTACGTTAACCTGACTTCTTCCGGGGAAAAGCTCCTCCTCTACCACACAGAAGAGACAATAAAAATCAATCAG
AAGTGCTCCTATATACCTAAATGTGGAAAAAATTTTGAAGAATCCATGTCCCTGGTGAATGTTGTCATGGAAAACTTCAGGAAGTATCAACACTTCTCCTGCTAT
TCTGACCCAGAAGGAAACCAGAAGAGTGTTATCCTAACAAAACTCTACAGTTCCAACGTGCTGTTCCATTCACTCTTCTGGCCAACCTGTATGATGGCTGGGGGT
GTGGCAATTGTTGCCATGGTGAAACTTACACAGTACCTCTCCCTACTATGTGAGAGGATCCAACGGATCAATAGATAA




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>KCNMB2|10242|protein
MFIWTSGRTSSSYRHDEKRNIYQKIRDHDLLDKRKTVTALKAGEDRAILLGLAMMVCSIMMYFLLGITLLRSYMQSVWTEESQCTLLNASITETFNCSFSCGPDC
WKLSQYPCLQVYVNLTSSGEKLLLYHTEETIKINQKCSYIPKCGKNFEESMSLVNVVMENFRKYQHFSCYSDPEGNQKSVILTKLYSSNVLFHSLFWPTCMMAGG
VAIVAMVKLTQYLSLLCERIQRINR


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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) 1 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top