Evidence Details for SLC25A30
Basic Information Top
| Gene Symbol: | SLC25A30 ( KMCP1 ) |
|---|---|
| Gene Full Name: | solute carrier family 25, member 30 |
| Band: | 13q14.13 |
| Quick Links | Entrez ID:253512; OMIM: 610793; Uniprot ID:KMCP1_HUMAN; ENSEMBL ID: ENSG00000174032; HGNC ID: 27371 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC25A30|253512|nucleotide
ATGTCAGCCCTCAACTGGAAGCCGTTTGTGTACGGGGGGCTGGCCTCCATCACTGCTGAGTGCGGTACATTTCCAATTGATTTAACCAAGACACGGCTCCAGATT
CAAGGCCAGACGAATGATGCAAAATTTAAGGAAATTAGATACCGAGGAATGTTGCACGCATTAGTGAGGATAGGCAGAGAAGAAGGGCTGAAAGCACTCTACTCG
GGGATTGCCCCCGCGATGTTACGCCAGGCATCCTATGGCACCATCAAGATAGGCACTTACCAGAGCTTGAAGCGACTATTCATTGAACGCCCAGAAGATGAAACT
CTACCGATAAATGTGATATGTGGAATTCTGTCTGGAGTCATATCTTCAACCATTGCTAATCCAACTGATGTTTTGAAAATTCGGATGCAAGCGCAAAGCAACACC
ATTCAAGGAGGAATGATAGGCAACTTCATGAACATTTACCAGCAAGAGGGGACAAGAGGACTGTGGAAGGGTGTGTCCCTTACTGCGCAGAGGGCTGCTATTGTT
GTTGGTGTGGAGCTGCCGGTCTATGACATCACCAAGAAGCATCTTATTCTCTCAGGCCTGATGGGAGACACTGTGTATACCCACTTCCTCTCAAGCTTCACCTGT
GGTCTGGCAGGGGCCCTGGCCTCAAACCCTGTTGATGTTGTGAGGACACGTATGATGAATCAGAGAGTGCTTCGAGATGGCAGATGTTCTGGCTACACAGGAACC
CTGGATTGCTTGTTACAGACATGGAAGAATGAAGGGTTTTTTGCTCTCTATAAAGGCTTTTGGCCAAATTGGTTGAGACTTGGTCCTTGGAATATCATTTTCTTT
GTGACATACGAGCAGTTGAAGAAATTGGATTTGTGA
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ATGTCAGCCCTCAACTGGAAGCCGTTTGTGTACGGGGGGCTGGCCTCCATCACTGCTGAGTGCGGTACATTTCCAATTGATTTAACCAAGACACGGCTCCAGATT
CAAGGCCAGACGAATGATGCAAAATTTAAGGAAATTAGATACCGAGGAATGTTGCACGCATTAGTGAGGATAGGCAGAGAAGAAGGGCTGAAAGCACTCTACTCG
GGGATTGCCCCCGCGATGTTACGCCAGGCATCCTATGGCACCATCAAGATAGGCACTTACCAGAGCTTGAAGCGACTATTCATTGAACGCCCAGAAGATGAAACT
CTACCGATAAATGTGATATGTGGAATTCTGTCTGGAGTCATATCTTCAACCATTGCTAATCCAACTGATGTTTTGAAAATTCGGATGCAAGCGCAAAGCAACACC
ATTCAAGGAGGAATGATAGGCAACTTCATGAACATTTACCAGCAAGAGGGGACAAGAGGACTGTGGAAGGGTGTGTCCCTTACTGCGCAGAGGGCTGCTATTGTT
GTTGGTGTGGAGCTGCCGGTCTATGACATCACCAAGAAGCATCTTATTCTCTCAGGCCTGATGGGAGACACTGTGTATACCCACTTCCTCTCAAGCTTCACCTGT
GGTCTGGCAGGGGCCCTGGCCTCAAACCCTGTTGATGTTGTGAGGACACGTATGATGAATCAGAGAGTGCTTCGAGATGGCAGATGTTCTGGCTACACAGGAACC
CTGGATTGCTTGTTACAGACATGGAAGAATGAAGGGTTTTTTGCTCTCTATAAAGGCTTTTGGCCAAATTGGTTGAGACTTGGTCCTTGGAATATCATTTTCTTT
GTGACATACGAGCAGTTGAAGAAATTGGATTTGTGA
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>SLC25A30|253512|protein
MSALNWKPFVYGGLASITAECGTFPIDLTKTRLQIQGQTNDAKFKEIRYRGMLHALVRIGREEGLKALYSGIAPAMLRQASYGTIKIGTYQSLKRLFIERPEDET
LPINVICGILSGVISSTIANPTDVLKIRMQAQSNTIQGGMIGNFMNIYQQEGTRGLWKGVSLTAQRAAIVVGVELPVYDITKKHLILSGLMGDTVYTHFLSSFTC
GLAGALASNPVDVVRTRMMNQRVLRDGRCSGYTGTLDCLLQTWKNEGFFALYKGFWPNWLRLGPWNIIFFVTYEQLKKLDL
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MSALNWKPFVYGGLASITAECGTFPIDLTKTRLQIQGQTNDAKFKEIRYRGMLHALVRIGREEGLKALYSGIAPAMLRQASYGTIKIGTYQSLKRLFIERPEDET
LPINVICGILSGVISSTIANPTDVLKIRMQAQSNTIQGGMIGNFMNIYQQEGTRGLWKGVSLTAQRAAIVVGVELPVYDITKKHLILSGLMGDTVYTHFLSSFTC
GLAGALASNPVDVVRTRMMNQRVLRDGRCSGYTGTLDCLLQTWKNEGFFALYKGFWPNWLRLGPWNIIFFVTYEQLKKLDL
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Steele, 2001 | - | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 1 | - | 1 |
| Sebat, 2007 | USA | aCGH |  | | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top