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SNP ID

rs187251510

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:6622260 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCGCACCTGCCACACATGGCTTG[C/T]CATCTGCTGGGAAGCCATAGTCCCC

Phenotype

MIM: 603057 MIM: 607998

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DCHS1 PubMed Links

Gene Details

Gene

DCHS1

Gene Name

dachsous cadherin-related 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003737.3	9823	Missense Mutation	GAC,GGC	D3139G	NP_003728.1

Gene

TPP1

Gene Name

tripeptidyl peptidase 1

There are no transcripts associated with this gene.

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