Product Details

SNP ID

hCV27528994

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:48565160 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGGTACTCCTCCACAGAATACT[A/C]GGAGTATTCAGAGTACTCATCATCC

Phenotype

MIM: 120120 MIM: 605320 MIM: 605902

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

COL7A1 PubMed Links

Gene Details

Gene

COL7A1

Gene Name

collagen type VII alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000094.3	8570	Nonsense Mutation	GAG,TAG	E2857*	NP_000085.1

Gene

PFKFB4

Gene Name

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4

There are no transcripts associated with this gene.

Gene

UCN2

Gene Name

urocortin 2

There are no transcripts associated with this gene.

View Full Product Details