Product Details

SNP ID

rs138988810

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52448859 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCATACCTGCTTCTTGACGTGGT[C/T]GATCTCAGATCTCAGCCTCTGGATC

Phenotype

MIM: 148042

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT6B PubMed Links

Gene Details

Gene

KRT6B

Gene Name

keratin 6B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005555.3	1234	Missense Mutation	AAC,GAC	N396D	NP_005546.2

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