Product Details

SNP ID

rs144771084

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:42060373 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCACTGTGAAGTTGGTTTCATCT[C/T]GGAGGCCACTGATGATGTCACCTGA

Phenotype

MIM: 104170 MIM: 610981

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NAGA PubMed Links

Gene Details

Gene

NAGA

Gene Name

alpha-N-acetylgalactosaminidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000262.2	1687	Missense Mutation	CAA,CGA	Q381R	NP_000253.1
XM_005261615.4	1687	Missense Mutation	CAA,CGA	Q381R	XP_005261672.1
XM_005261616.4	1687	Missense Mutation	CAA,CGA	Q381R	XP_005261673.1

Gene

WBP2NL

Gene Name

WBP2 N-terminal like

There are no transcripts associated with this gene.

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