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SNP ID: rs2230283
Assay Type: Validated
NCBI dbSNP Submissions: NA
Location: Chr.12:89523034 on Build GRCh38
Set Membership: HapMap Validated
Context Sequence [VIC/FAM]: CCCACATAATTTTTTTGCTCAGGTA[T/C]CTCTGCACATAACTCTGTCACAGAA
Phenotype: MIM: 603565 MIM: 614784
Polymorphism: T/C, Transition substitution
Allele Nomenclature
Literature Links: GALNT4 PubMed Links

Gene Details

Gene: GALNT4
Gene Name: polypeptide N-acetylgalactosaminyltransferase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003774.4	1773	Missense Mutation	ATA,GTA	I506V	NP_003765.2

Gene: POC1B
Gene Name: POC1 centriolar protein B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199777.1	1773	Intron			NP_001186706.1
NM_172240.2	1773	Intron			NP_758440.1

Gene: POC1B-GALNT4
Gene Name: POC1B-GALNT4 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199781.1	1773	Missense Mutation	ATA,GTA	I503V	NP_001186710.1
NM_001199782.1	1773	Missense Mutation	ATA,GTA	I334V	NP_001186711.1

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