Product Details

SNP ID

rs193200197

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:56057694 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTTTCTGAACGGATCTCTTCTG[C/G]CAATTACACTAAAACATAGTGATGG

Phenotype

MIM: 610002

Polymorphism

C/G, Transversion 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	3199	Missense Mutation	GCC,GGC	A946G	NP_001305680.1
NM_001318752.1	3199	Missense Mutation	GCC,GGC	A943G	NP_001305681.1
NM_001318753.1	3199	Missense Mutation	GCC,GGC	A344G	NP_001305682.1
NM_001318754.1	3199	Missense Mutation	GCC,GGC	A303G	NP_001305683.1
NM_030820.3	3199	Missense Mutation	GCC,GGC	A946G	NP_110447.2
XM_006715223.1	3199	Missense Mutation	GCC,GGC	A934G	XP_006715286.1
XM_011514924.2	3199	Missense Mutation	GCC,GGC	A946G	XP_011513226.1
XM_011514925.2	3199	Missense Mutation	GCC,GGC	A946G	XP_011513227.1
XM_011514926.1	3199	Missense Mutation	GCC,GGC	A946G	XP_011513228.1
XM_011514927.1	3199	Missense Mutation	GCC,GGC	A946G	XP_011513229.1

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