Product Details

SNP ID

rs11703598

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50059747 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGCCTCTCCTCTCCCACGGTGG[C/T]GCTTGTTTGGGGCTGTGGCCAAAGT

Phenotype

MIM: 605908

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MLC1 PubMed Links

Gene Details

Gene

MLC1

Gene Name

megalencephalic leukoencephalopathy with subcortical cysts 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015166.3	3200	UTR 3			NP_055981.1
NM_139202.2	3200	UTR 3			NP_631941.1
XM_011530678.1	3200	UTR 3			XP_011528980.1
XM_017028671.1	3200	UTR 3			XP_016884160.1

Gene

TTLL8

Gene Name

tubulin tyrosine ligase like 8

There are no transcripts associated with this gene.

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