Product Details

SNP ID

rs200977899

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219246705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAAGGGTTACATGATGGACACTT[C/G]TACGCCCTGAAGCGAATCCTGTGTC

Phenotype

MIM: 604719 MIM: 191110

Polymorphism

C/G, Transversion 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	526	Missense Mutation	TTC,TTG	F45L	XP_011510369.1
XM_017005160.1	526	UTR 5			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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