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SNP ID: rs3784878
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:88856222 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GACACCTGACCTTCGCTCAGCATTC[C/T]CCAGAGGACAGAGACAGCCGTCAGG
Phenotype: MIM: 612222 MIM: 610970
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: GALNS PubMed Links

Gene Details

Gene: GALNS
Gene Name: galactosamine (N-acetyl)-6-sulfatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000512.4		Intron			NP_000503.1
NM_001323543.1		Intron			NP_001310472.1
NM_001323544.1		Intron			NP_001310473.1
XM_005256301.3		Intron			XP_005256358.1
XM_011522982.2		Intron			XP_011521284.1
XM_017023111.1		Intron			XP_016878600.1
XM_017023112.1		Intron			XP_016878601.1
XM_017023113.1		Intron			XP_016878602.1

Gene: PABPN1L
Gene Name: poly(A) binding protein nuclear 1 like (cytoplasmic)

There are no transcripts associated with this gene.

Gene: TRAPPC2L
Gene Name: trafficking protein particle complex 2-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318524.1		Intron			NP_001305453.1
NM_001318525.1		Intron			NP_001305454.1
NM_001318526.1		Intron			NP_001305455.1
NM_001318527.1		Intron			NP_001305456.1
NM_001318528.1		Intron			NP_001305457.1
NM_001318529.1		Intron			NP_001305458.1
NM_001318530.1		Intron			NP_001305459.1
NM_001318532.1		Intron			NP_001305461.1
NM_016209.4		Intron			NP_057293.1
XM_017023270.1		Intron			XP_016878759.1

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