Product Details

SNP ID

rs145106222

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:5027159 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGTGAAAAAGGAGAGTTCTCCC[A/G]CCCTCAGGGTGGCTTCAGGTGGCTG

Phenotype

MIM: 607985

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NAGPA PubMed Links

Gene Details

Gene

NAGPA

Gene Name

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016256.3	1343	Missense Mutation	GCG,GTG	A439V	NP_057340.2
XM_011522517.2	1343	Missense Mutation	GCG,GTG	A439V	XP_011520819.1

Gene

NAGPA-AS1

Gene Name

NAGPA antisense RNA 1

There are no transcripts associated with this gene.

Gene

SEC14L5

Gene Name

SEC14 like lipid binding 5

There are no transcripts associated with this gene.

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