Product Details

SNP ID

hCV27860956

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:177431749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCCTCAGTTGGCTGATTTTTTT[A/C]GGAATTATAAACCATGAAACTAAAC

Phenotype

MIM: 613228

Polymorphism

A/C, Transversion 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	1098	Nonsense Mutation	GAA,TAA	E334*	NP_000018.2
NM_001171988.1	1098	Nonsense Mutation	GAA,TAA	E324*	NP_001165459.1

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