Product Details

SNP ID

rs200564236

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:56060210 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCTTCCACTCTGAAGTAAGACTG[A/G]TAGCTGGGCTTTCAAAAACAAAGAA

Phenotype

MIM: 610002

Polymorphism

A/G, 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	2778	Missense Mutation	CCA,TCA	P806S	NP_001305680.1
NM_001318752.1	2778	Missense Mutation	CCA,TCA	P803S	NP_001305681.1
NM_001318753.1	2778	Missense Mutation	CCA,TCA	P204S	NP_001305682.1
NM_001318754.1	2778	Missense Mutation	CCA,TCA	P163S	NP_001305683.1
NM_030820.3	2778	Missense Mutation	CCA,TCA	P806S	NP_110447.2
XM_006715223.1	2778	Missense Mutation	CCA,TCA	P794S	XP_006715286.1
XM_011514924.2	2778	Missense Mutation	CCA,TCA	P806S	XP_011513226.1
XM_011514925.2	2778	Missense Mutation	CCA,TCA	P806S	XP_011513227.1
XM_011514926.1	2778	Missense Mutation	CCA,TCA	P806S	XP_011513228.1
XM_011514927.1	2778	Missense Mutation	CCA,TCA	P806S	XP_011513229.1

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