Product Details

SNP ID

rs148049721

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:52608296 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCAGCCTGGTCCTGGCTTCCCCA[C/T]GGGGGCTACAGTTCCCACTGCCAGT

Phenotype

MIM: 608246 MIM: 608247

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KRT72 PubMed Links

Gene Details

Gene

KRT72

Gene Name

keratin 72

There are no transcripts associated with this gene.

Gene

KRT73

Gene Name

keratin 73

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175068.2	3036	Missense Mutation	CAT,CGT	H508R	NP_778238.1
XM_011538257.2	3036	Missense Mutation	CAT,CGT	H476R	XP_011536559.1

Gene

KRT73-AS1

Gene Name

KRT73 antisense RNA 1

There are no transcripts associated with this gene.

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