Product Details

SNP ID

rs146710132

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:177434395 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAAGTCATACCTTGGCAGGAAGC[A/G]CATCAATATATCACCATTCCCAGTG

Phenotype

MIM: 613228

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AGA PubMed Links

Gene Details

Gene

AGA

Gene Name

aspartylglucosaminidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000027.3	891	Missense Mutation	CGC,TGC	R265C	NP_000018.2
NM_001171988.1	891	Missense Mutation	CGC,TGC	R255C	NP_001165459.1

Gene

LOC285500

Gene Name

uncharacterized LOC285500

There are no transcripts associated with this gene.

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