AutismKB 2.0

Evidence Details for SLC25A12


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Basic Information Top
Gene Symbol:SLC25A12 ( AGC1,ARALAR )
Gene Full Name: solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Band: 2q31.1
Quick LinksEntrez ID:8604; OMIM: 603667; Uniprot ID:CMC1_HUMAN; ENSEMBL ID: ENSG00000115840; HGNC ID: 10982
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC25A12|8604|nucleotide
ATGGCGGTCAAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGTATGCCAGTACTGAGGTTGATGGAGAGCGTTATATGACC
CCAGAAGACTTTGTTCAGCGCTATCTTGGACTGTATAATGATCCAAATAGTAACCCAAAGATCGTGCAGCTCTTGGCAGGAGTAGCTGATCAAACCAAGGATGGG
TTGATCTCCTATCAAGAGTTTTTGGCATTTGAATCTGTTTTATGTGCTCCAGATTCCATGTTCATAGTGGCTTTCCAGTTGTTTGACAAGAGTGGAAATGGAGAG
GTGACATTTGAAAATGTCAAAGAAATTTTTGGACAGACTATTATTCATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGCATTTTGGGCATAAC
CGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAGGAGCTGCAATTGGAACATGCAAGACAAGCCTTTGCACTCAAAGACAAAAGCAAAAGTGGC
ATGATTTCTGGTCTGGATTTCAGTGACATCATGGTTACCATTAGATCTCACATGCTTACTCCTTTTGTGGAGGAGAACTTAGTTTCAGCAGCTGGAGGAAGTATC
TCACACCAGGTTAGCTTCTCCTACTTCAATGCATTTAACTCGTTACTGAATAACATGGAGCTTGTTCGTAAGATATATAGCACTCTAGCTGGCACAAGGAAAGAT
GTTGAAGTCACAAAGGAGGAATTTGCCCAGAGTGCCATACGCTATGGACAAGTCACACCACTAGAAATTGATATTCTATATCAGCTTGCAGACTTATATAATGCT
TCAGGGCGCTTGACTTTGGCAGATATTGAGAGAATAGCCCCATTGGCTGAGGGGGCCTTACCTTACAACCTGGCAGAACTTCAGAGACAGCAGTCTCCTGGGTTA
GGCAGGCCTATCTGGCTCCAGATTGCCGAGTCTGCTTACAGATTCACTCTGGGCTCAGTTGCTGGAGCTGTGGGAGCCACTGCAGTGTATCCTATAGATCTGGTG
AAGACCCGAATGCAAAACCAGCGTGGCTCTGGCTCTGTTGTTGGGGAGCTAATGTACAAAAACAGCTTTGACTGTTTTAAGAAAGTCTTGCGTTATGAGGGCTTC
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>SLC25A12|8604|protein
MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLLAGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGE
VTFENVKEIFGQTIIHHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGLDFSDIMVTIRSHMLTPFVEENLVSAAGGSI
SHQVSFSYFNAFNSLLNNMELVRKIYSTLAGTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGALPYNLAELQRQQSPGL
GRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGSGSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR
DGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGLYKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAG
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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) 2 (4) 3 (14) 2 (2) 0 (0) 0 (0) 0 (0) 2 (2) 32 (22)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top