Product Details

SNP ID: rs36113897
Assay Type: Validated
NCBI dbSNP Submissions: NA
Location: Chr.6:57052722 on Build GRCh38
Set Membership: Validated
Context Sequence [VIC/FAM]: TAAAATGCCAAAACGACAGGGTGAT[T/C]TTTTGCATTTTTTAAATGTGAAGAA
Phenotype
Polymorphism: T/C, Transition substitution
Allele Nomenclature
Literature Links: KIAA1586 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286274.1	425	Missense Mutation	CTT,TTT	L48F	NP_001273203.1
NM_001286275.1	425	Missense Mutation	CTT,TTT	L8F	NP_001273204.1
NM_001286276.1	425	Missense Mutation	CTT,TTT	L8F	NP_001273205.1
NM_020931.3	425	Missense Mutation	CTT,TTT	L75F	NP_065982.1
XM_011514767.2	425	Missense Mutation	CTT,TTT	L75F	XP_011513069.1