Product Details

SNP ID
rs149393855
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48565413 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACGGGTTCAGCTGTCCTCACCTT[C/T]CTCCTCTGCATGAGAGACGCGGAGC
Phenotype
MIM: 120120 MIM: 605320 MIM: 605902
Polymorphism
C/T, 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 8560 Missense Mutation AAA,GAA K2842E NP_000085.1
XM_011533337.1 8560 Missense Mutation AAA,GAA K2842E XP_011531639.1
XM_017005688.1 8560 Missense Mutation AAA,GAA K2822E XP_016861177.1
XM_017005689.1 8560 Intron XP_016861178.1
XM_017005690.1 8560 Intron XP_016861179.1
XM_017005691.1 8560 Intron XP_016861180.1
XM_017005692.1 8560 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.

View Full Product Details