Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGTCACTGGGCCATTTGCACCACGA[C/T]GGCTCTCCAGGCTTTCTCCTTGTCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 605908 | ||||||||||||||||||||
Literature Links: |
MLC1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
MLC1 - megalencephalic leukoencephalopathy with subcortical cysts 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015166.3 | 1341 | Missense Mutation | ATC,GTC | I,V 371 | NP_055981.1 | |
NM_139202.2 | 1341 | Missense Mutation | ATC,GTC | I,V 371 | NP_631941.1 | |
XM_011530678.1 | 1341 | Missense Mutation | ATC,GTC | I,V 316 | XP_011528980.1 | |
XM_017028671.1 | 1341 | Missense Mutation | ATC,GTC | I,V 371 | XP_016884160.1 |
TTLL8 - tubulin tyrosine ligase like 8 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |