Product Details

SNP ID: rs200670762
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:89523118 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAGAATTGATTGCCTCCTTGACCAT[A/G]GCATCCAAACAGTGAAAGGTTAGCA
Phenotype: MIM: 603565 MIM: 614784
Polymorphism: A/G, 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	1689	Missense Mutation	CAT,TAT	H478Y	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	1689	Intron			NP_001186706.1
NM_172240.2	1689	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	1689	Missense Mutation	CAT,TAT	H475Y	NP_001186710.1
NM_001199782.1	1689	Missense Mutation	CAT,TAT	H306Y	NP_001186711.1

View Full Product Details