Product Details

SNP ID
rs147568694
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40750997 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTTCAATTTCCAGGGTTTGAAGA[A/G]TGCGCTTCATTTCAGTCAGCTCATT
Phenotype
MIM: 616646
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KRT25 PubMed Links

Gene Details

Gene
KRT25
Gene Name
keratin 25
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181534.3 963 Missense Mutation ACT,ATT T305I NP_853512.1
XM_011524414.1 963 Missense Mutation ACT,ATT T303I XP_011522716.1

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