Product Details

SNP ID

rs189874834

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:129908320 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGATGTGGAAGTAGGAAGATGCG[C/T]TCGCCGTTTTGGTGGGACTCAGTGT

Phenotype

MIM: 609963

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHSY3 PubMed Links

Gene Details

Gene

CHSY3

Gene Name

chondroitin sulfate synthase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175856.4	1420	Missense Mutation	GCT,GTT	A349V	NP_787052.3
XM_005271982.3	1420	Missense Mutation	GCT,GTT	A349V	XP_005272039.1
XM_005271983.3	1420	Missense Mutation	GCT,GTT	A349V	XP_005272040.1
XM_011543363.2	1420	Missense Mutation	GCT,GTT	A40V	XP_011541665.1
XM_011543364.2	1420	Intron			XP_011541666.1
XM_011543365.2	1420	Missense Mutation	GCT,GTT	A349V	XP_011541667.1
XM_017009434.1	1420	Intron			XP_016864923.1
XM_017009435.1	1420	Missense Mutation	GCT,GTT	A349V	XP_016864924.1

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