Product Details

SNP ID

rs6663842

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:235443529 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAAGTTGTATTTTTAACCAAAAAA[A/C]CTGAGACCTTGAATGGCATAGCCTT

Phenotype

MIM: 610194 MIM: 604934

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

B3GALNT2 PubMed Links

Gene Details

Gene

B3GALNT2

Gene Name

beta-1,3-N-acetylgalactosaminyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001277155.2		Intron			NP_001264084.1
NM_152490.4		Intron			NP_689703.1
XM_006711749.3		Intron			XP_006711812.1
XM_017000394.1		Intron			XP_016855883.1
XM_017000395.1		Intron			XP_016855884.1

Gene

TBCE

Gene Name

tubulin folding cofactor E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079515.2		Intron			NP_001072983.1
NM_001287801.1		Intron			NP_001274730.1
NM_001287802.1		Intron			NP_001274731.1
NM_003193.4		Intron			NP_003184.1

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