Product Details

SNP ID

rs145576984

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219252150 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCATCTGCCCATCAGGCTGAATCCC[A/G]TGTTCCAAGCAATAGAGCTCCCAGC

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

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	595	Silent Mutation	CAC,CAT	H13H	NP_001265481.1
NM_006000.2	595	Silent Mutation	CAC,CAT	H28H	NP_005991.1
XM_017004824.1	595	Intron			XP_016860313.1

Gene

TUBA4B

Gene Name

tubulin alpha 4b

There are no transcripts associated with this gene.

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