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SNP ID

rs145055719

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:26951425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTGGGGCAGCAGCCCGAGTTGAA[C/T]GACCCTCCGAGGTCTGTGGGCGAGC

Phenotype

MIM: 616758 MIM: 610325

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KDF1 PubMed Links

Gene Details

Gene

KDF1

Gene Name

keratinocyte differentiation factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152365.2	1049	Missense Mutation	CAT,CGT	H319R	NP_689578.2
XM_005245735.2	1049	Missense Mutation	CAT,CGT	H319R	XP_005245792.1
XM_011540622.1	1049	Missense Mutation	CAT,CGT	H319R	XP_011538924.1

Gene

NUDC

Gene Name

nuclear distribution C, dynein complex regulator

There are no transcripts associated with this gene.

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