Product Details

SNP ID

rs202212082

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:33092845 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCAGGGCCAGTTCAGGGAGACC[A/G]CTGCAGGATGAGCTCTGTGATCTCG

Phenotype

MIM: 611458

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GLB1 PubMed Links

Gene Details

Gene

GLB1

Gene Name

galactosidase beta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000404.3	1542	Intron			NP_000395.2
NM_001079811.2	1542	Intron			NP_001073279.1
NM_001135602.2	1542	Intron			NP_001129074.1
NM_001317040.1	1542	Intron			NP_001303969.1

Gene

TMPPE

Gene Name

transmembrane protein with metallophosphoesterase domain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039770.2	1542	Missense Mutation	CGG,TGG	R451W	NP_001034859.2
NM_001136238.1	1542	Missense Mutation	CGG,TGG	R314W	NP_001129710.1

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