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SNP ID

rs137964147

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:45982738 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACAAAGTCAAGTCCTTCACCAAG[C/T]GCTTCATCGACAACCTGAGGGACAG

Phenotype

MIM: 120220

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COL6A1 PubMed Links

Gene Details

Gene

COL6A1

Gene Name

collagen type VI alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001848.2	304	Missense Mutation	CGC,TGC	R68C	NP_001839.2

Gene

LOC101928796

Gene Name

uncharacterized LOC101928796

There are no transcripts associated with this gene.

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