Product Details

SNP ID

rs78394488

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:88863969 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCTCTTGGGAGGGTCCCACGAAA[A/G]GGAAAGGCAGTGCCAGGAGAGCCCC

Phenotype

MIM: 612222 MIM: 610970

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GALNS PubMed Links

Gene Details

Gene

GALNS

Gene Name

galactosamine (N-acetyl)-6-sulfatase

There are no transcripts associated with this gene.

Gene

PABPN1L

Gene Name

poly(A) binding protein nuclear 1 like (cytoplasmic)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080487.2		Intron			NP_001073956.2
NM_001294328.1		Intron			NP_001281257.1
XM_017023230.1		Intron			XP_016878719.1

Gene

TRAPPC2L

Gene Name

trafficking protein particle complex 2-like

There are no transcripts associated with this gene.

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