Product Details

SNP ID

rs113407270

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:177431726 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATGGATTAGATGCAGTCCACTTT[C/T]TCCTCAGTTGGCTGATTTTTTTCGG

Phenotype

MIM: 613228

Polymorphism

C/T, 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	1121	Silent Mutation	GAA,GAG	E341E	NP_000018.2
NM_001171988.1	1121	Silent Mutation	GAA,GAG	E331E	NP_001165459.1

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