Product Details

SNP ID

hCV12036876

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6614892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAAGAGTCCTGCCCCATGCTGCT[A/G]GTAGAGCCTTGGGTTGAGAAAGCCA

Phenotype

MIM: 603057 MIM: 602366 MIM: 600475 MIM: 607998

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DCHS1 PubMed Links

Gene Details

Gene

DCHS1

Gene Name

dachsous cadherin-related 1

There are no transcripts associated with this gene.

Gene

ILK

Gene Name

integrin linked kinase

There are no transcripts associated with this gene.

Gene

TAF10

Gene Name

TATA-box binding protein associated factor 10

There are no transcripts associated with this gene.

Gene

TPP1

Gene Name

tripeptidyl peptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000391.3	1586	Nonsense Mutation	CAG,TAG	Q509*	NP_000382.3

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