Product Details

SNP ID

rs149731216

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:104457461 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAGGATGAACAGAATCTGCCGGA[C/T]GGTGCTGGCCACTTGCTTGGGATCC

Phenotype

MIM: 610128

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHST11 PubMed Links

Gene Details

Gene

CHST11

Gene Name

carbohydrate (chondroitin 4) sulfotransferase 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001173982.1	548	Missense Mutation	ACG,ATG	T17M	NP_001167453.1
NM_018413.5	548	Missense Mutation	ACG,ATG	T17M	NP_060883.1
XM_017019369.1	548	Intron			XP_016874858.1

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