Product Details

SNP ID

rs145869559

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48601007 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACCATAAGTGCAGTCATAGTGGC[C/T]GATGATGGCATTGGCCACTTGCAAG

Phenotype

MIM: 120120 MIM: 191328

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COL7A1 PubMed Links

Gene Details

Gene

COL7A1

Gene Name

collagen type VII alpha 1

There are no transcripts associated with this gene.

Gene

SNORA94

Gene Name

small nucleolar RNA, H/ACA box 94

There are no transcripts associated with this gene.

Gene

UQCRC1

Gene Name

ubiquinol-cytochrome c reductase core protein I

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003365.2	979	Missense Mutation	AGC,GGC	S312G	NP_003356.2

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