Product Details

SNP ID
rs200651096
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219251612 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGGGTCAATGATCTCCTTGCCAA[C/T]GGTATAGTGACCACGGGCATAGTTG
Phenotype
MIM: 604719 MIM: 191110
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
GLB1L PubMed Links

Gene Details

Gene
GLB1L
Gene Name
galactosidase beta 1 like
There are no transcripts associated with this gene.

Gene
STK16
Gene Name
serine/threonine kinase 16
There are no transcripts associated with this gene.

Gene
TUBA4A
Gene Name
tubulin alpha 4a
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278552.1 163 Missense Mutation ATT,GTT I95V NP_001265481.1
NM_006000.2 163 Missense Mutation ATT,GTT I110V NP_005991.1
XM_017004824.1 163 UTR 5 XP_016860313.1
Gene
TUBA4B
Gene Name
tubulin alpha 4b
There are no transcripts associated with this gene.

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