Product Details

SNP ID

rs137920367

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:197572267 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCTTGTCTTCACCTTTTATGTGG[C/T]GGCTGGCTTTCTTCTGAAACACAAG

Phenotype

Polymorphism

C/T, Transition 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	1866	Missense Mutation	CAC,CGC	H416R	NP_653230.2
XM_011510595.2	1866	Missense Mutation	CAC,CGC	H426R	XP_011508897.1
XM_011510596.2	1866	Missense Mutation	CAC,CGC	H425R	XP_011508898.1
XM_011510597.2	1866	Missense Mutation	CAC,CGC	H415R	XP_011508899.1
XM_011510598.2	1866	Missense Mutation	CAC,CGC	H409R	XP_011508900.1
XM_017003332.1	1866	Missense Mutation	CAC,CGC	H399R	XP_016858821.1

View Full Product Details