Product Details

SNP ID
rs141305516
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52233603 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCAAGACCCTCAACAACAAGTTT[G/T]CCTCCTTCATCGACAAGGTGAGCGG
Phenotype
MIM: 148059
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
KRT7 PubMed Links

Gene Details

Gene
KRT7
Gene Name
keratin 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005556.3 387 Missense Mutation GCC,TCC A103S NP_005547.3
XM_011538325.1 387 Missense Mutation GCC,TCC A103S XP_011536627.1
XM_017019294.1 387 UTR 5 XP_016874783.1
Gene
LINC00592
Gene Name
long intergenic non-protein coding RNA 592
There are no transcripts associated with this gene.

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