Product Details

SNP ID

rs143129444

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:70637839 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCCACCAATCAGCAATGAAGAAG[G/T]GGGGGTAAGTACAAGTAAAACTACA

Phenotype

MIM: 606585

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ENAM PubMed Links

Gene Details

Gene

ENAM

Gene Name

enamelin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031889.2	2614	Missense Mutation	GGG,GTG	G195V	NP_114095.2
XM_006714056.3	2614	Missense Mutation	GGG,GTG	G195V	XP_006714119.1

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