Product Details

SNP ID

rs201447608

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52287126 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTGCTCCTCGCCCTCCAGCAGG[C/T]GCCTGTAGGTGGCGATCTCGATGTC

Phenotype

MIM: 602153 MIM: 601928

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KRT81 PubMed Links

Additional Information

For this assay, SNP(s) [rs59448276] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

KRT81

Gene Name

keratin 81

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002281.3	1273	Missense Mutation			NP_002272.2

Gene

KRT86

Gene Name

keratin 86

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320198.1	1273	Intron			NP_001307127.1
XM_005268866.4	1273	Intron			XP_005268923.1
XM_017019296.1	1273	Intron			XP_016874785.1

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