Product Details

SNP ID: rs3814299
Assay Type: Functionally tested
NCBI dbSNP Submissions: 50
Location: Chr.1:152302977 on Build GRCh38
Set Membership: HapMap JSNP
Context Sequence [VIC/FAM]: GCTGCCATGTCTCCAAACTAAACCT[A/G]ATTGACCTTTTTGCCTTTCAGTGCC
Phenotype: MIM: 135940
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: FLG PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002016.1	11945	Missense Mutation	TCA,TTA	S3970L	NP_002007.1