Product Details

SNP ID

rs201562174

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:185734855 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTCCCTAGCTCAAGATGCGAGC[C/T]CCCAGTCAGAGATCAGAGCTGAGGA

Phenotype

MIM: 608548

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HMCN1 PubMed Links

Gene Details

Gene

HMCN1

Gene Name

hemicentin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031935.2	330	Missense Mutation	CCC,TCC	P26S	NP_114141.2
XM_011510038.2	330	Missense Mutation	CCC,TCC	P26S	XP_011508340.1
XM_011510041.2	330	Missense Mutation	CCC,TCC	P26S	XP_011508343.1
XM_017002437.1	330	Intron			XP_016857926.1

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