Product Details

SNP ID
rs138002006
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48565199 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACTCATCATCCTCAGGGGGTACCC[A/G]CTCTGCAGGTAGGGCAGGGTGTGCT
Phenotype
MIM: 120120 MIM: 605320 MIM: 605902
Polymorphism
A/G, Transition 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 8566 Missense Mutation CGG,TGG R2844W NP_000085.1
XM_011533337.1 8566 Missense Mutation CGG,TGG R2844W XP_011531639.1
XM_017005688.1 8566 Missense Mutation CGG,TGG R2824W XP_016861177.1
XM_017005689.1 8566 Intron XP_016861178.1
XM_017005690.1 8566 Intron XP_016861179.1
XM_017005691.1 8566 Intron XP_016861180.1
XM_017005692.1 8566 Intron XP_016861181.1
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.

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