Product Details

SNP ID

rs151105390

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:177431743 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACTTTTTCCTCAGTTGGCTGAT[G/T]TTTTTCGGAATTATAAACCATGAAA

Phenotype

MIM: 613228

Polymorphism

G/T, 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	1104	Missense Mutation	AAT,CAT	N336H	NP_000018.2
NM_001171988.1	1104	Missense Mutation	AAT,CAT	N326H	NP_001165459.1

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