Product Details

SNP ID

rs144598269

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:104457462 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGGATGAACAGAATCTGCCGGAT[G/T]GTGCTGGCCACTTGCTTGGGATCCT

Phenotype

MIM: 610128

Polymorphism

G/T, Transversion 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	549	Missense Mutation	ATG,ATT	M17I	NP_001167453.1
NM_018413.5	549	Missense Mutation	ATG,ATT	M17I	NP_060883.1
XM_017019369.1	549	Intron			XP_016874858.1

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