Product Details

SNP ID

rs201203132

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:56060767 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTATTACATCTGTGCAAACTTGT[C/T]GAATAAATTGTTCTGAAAACTCTCT

Phenotype

MIM: 610002

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COL21A1 PubMed Links

Gene Details

Gene

COL21A1

Gene Name

collagen type XXI alpha 1 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318751.1	2743	Missense Mutation	CAA,CGA	Q794R	NP_001305680.1
NM_001318752.1	2743	Missense Mutation	CAA,CGA	Q791R	NP_001305681.1
NM_001318753.1	2743	Missense Mutation	CAA,CGA	Q192R	NP_001305682.1
NM_001318754.1	2743	Missense Mutation	CAA,CGA	Q151R	NP_001305683.1
NM_030820.3	2743	Missense Mutation	CAA,CGA	Q794R	NP_110447.2
XM_006715223.1	2743	Missense Mutation	CAA,CGA	Q782R	XP_006715286.1
XM_011514924.2	2743	Missense Mutation	CAA,CGA	Q794R	XP_011513226.1
XM_011514925.2	2743	Missense Mutation	CAA,CGA	Q794R	XP_011513227.1
XM_011514926.1	2743	Missense Mutation	CAA,CGA	Q794R	XP_011513228.1
XM_011514927.1	2743	Missense Mutation	CAA,CGA	Q794R	XP_011513229.1

View Full Product Details