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SNP ID: hCV806090
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:88856849 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGAGCACCAGCAACAGCTGCCAC[C/T]ACCTCGTCGCCGCGACAACCGCCGC
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	122	Nonsense Mutation	TAG,TGG	*10W	NP_000503.1
NM_001323543.1	122	UTR 5			NP_001310472.1
NM_001323544.1	122	UTR 5			NP_001310473.1

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	122	Intron			NP_001305453.1
NM_001318525.1	122	Intron			NP_001305454.1
NM_001318526.1	122	Intron			NP_001305455.1
NM_001318527.1	122	Intron			NP_001305456.1
NM_001318528.1	122	Intron			NP_001305457.1
NM_001318529.1	122	Intron			NP_001305458.1
NM_001318530.1	122	Intron			NP_001305459.1
NM_001318532.1	122	Intron			NP_001305461.1
NM_016209.4	122	Intron			NP_057293.1

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