Product Details

SNP ID

rs201940627

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:70634537 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAAGCAGCCATCACATAATCAAC[C/T]TCAGCCCGAAGAGGAAGCTCAACCC

Phenotype

MIM: 606585

Polymorphism

C/T, Transition 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	2470	Missense Mutation	CCT,CTT	P147L	NP_114095.2
XM_006714056.3	2470	Missense Mutation	CCT,CTT	P147L	XP_006714119.1

View Full Product Details