Product Details

SNP ID

rs111824150

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:104033286 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGTCACGTTGCTGTAGGCAGAGA[A/G]GACCTTGCTGATGCCGGGTGGCCCC

Phenotype

MIM: 113811 MIM: 616563

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL17A1 PubMed Links

Gene Details

Gene

COL17A1

Gene Name

collagen type XVII alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000494.3	4415	Missense Mutation	CTC,TTC	L1416F	NP_000485.3

Gene

SLK

Gene Name

STE20 like kinase

There are no transcripts associated with this gene.

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