Product Details

SNP ID
rs144478531
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219247749 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACTGTGTCATCGATGAGCGGACT[A/G]ATGTCTGGGTGAGGAGCATGTGGGT
Phenotype
MIM: 604719 MIM: 191110
Polymorphism
A/G, 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_011512067.2 906 Intron XP_011510369.1
XM_017005160.1 906 Missense Mutation AAT,GAT N81D XP_016860649.1
Gene
TUBA4A
Gene Name
tubulin alpha 4a
There are no transcripts associated with this gene.

Gene
TUBA4B
Gene Name
tubulin alpha 4b
There are no transcripts associated with this gene.

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