Product Details

SNP ID

rs78325830

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:130347846 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTTGTAGGATCTCAGATCCAGTA[C/T]ACACTGAGCAAGTGGAAAGTGCAAA

Phenotype

MIM: 611916

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COL6A5 PubMed Links

Gene Details

Gene

COL6A5

Gene Name

collagen type VI alpha 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278298.1		Intron			NP_001265227.1
NM_153264.6		Intron			NP_694996.5
XM_011512621.2		Intron			XP_011510923.1
XM_011512622.2		Intron			XP_011510924.1
XM_011512623.2		Intron			XP_011510925.1

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