Product Details

SNP ID

rs185013796

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:45650004 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTCGGTCTTCTTCATAGGGTTC[C/T]GAGCCAGGTCCTCGTAGCGCACCAA

Phenotype

MIM: 603797

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHST1 PubMed Links

Gene Details

Gene

CHST1

Gene Name

carbohydrate sulfotransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003654.5	1590	Missense Mutation	CAG,CGG	Q307R	NP_003645.1
XM_006718356.3	1590	Missense Mutation	CAG,CGG	Q307R	XP_006718419.1
XM_017018459.1	1590	Missense Mutation	CAG,CGG	Q307R	XP_016873948.1

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