Product Details

SNP ID

rs138820115

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:197572047 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGAGTCACTCCATCTTCCTGATC[A/C]AACTGTCCGTCGTCTAATTCCCGGA

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RFTN2 PubMed Links

Gene Details

Gene

RFTN2

Gene Name

raftlin family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144629.2	2086	Missense Mutation	TTG,TTT	L489F	NP_653230.2
XM_011510595.2	2086	Missense Mutation	TTG,TTT	L499F	XP_011508897.1
XM_011510596.2	2086	Missense Mutation	TTG,TTT	L498F	XP_011508898.1
XM_011510597.2	2086	Missense Mutation	TTG,TTT	L488F	XP_011508899.1
XM_011510598.2	2086	Missense Mutation	TTG,TTT	L482F	XP_011508900.1
XM_017003332.1	2086	Missense Mutation	TTG,TTT	L472F	XP_016858821.1

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