Product Details

SNP ID

rs147041695

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:170878122 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTTGGCTGAATTGGAAGTGTTAT[A/G]TACTCATCTCTACATAGGGACTGAT

Phenotype

MIM: 606141

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RANBP17 PubMed Links

Gene Details

Gene

RANBP17

Gene Name

RAN binding protein 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022897.4	52	Missense Mutation	TAT,TGT	Y15C	NP_075048.1
XM_011534627.1	52	Missense Mutation	TAT,TGT	Y15C	XP_011532929.1
XM_011534631.2	52	Missense Mutation	TAT,TGT	Y17C	XP_011532933.1
XM_011534636.2	52	Missense Mutation	TAT,TGT	Y15C	XP_011532938.1
XM_011534637.2	52	Missense Mutation	TAT,TGT	Y15C	XP_011532939.1
XM_017009736.1	52	Missense Mutation	TAT,TGT	Y15C	XP_016865225.1
XM_017009737.1	52	Missense Mutation	TAT,TGT	Y17C	XP_016865226.1
XM_017009738.1	52	Missense Mutation	TAT,TGT	Y15C	XP_016865227.1
XM_017009739.1	52	Missense Mutation	TAT,TGT	Y15C	XP_016865228.1
XM_017009740.1	52	Missense Mutation	TAT,TGT	Y15C	XP_016865229.1
XM_017009741.1	52	Missense Mutation	TAT,TGT	Y15C	XP_016865230.1
XM_017009742.1	52	Missense Mutation	TAT,TGT	Y15C	XP_016865231.1
XM_017009743.1	52	UTR 5			XP_016865232.1
XM_017009744.1	52	Missense Mutation	TAT,TGT	Y15C	XP_016865233.1
XM_017009745.1	52	Intron			XP_016865234.1
XM_017009746.1	52	Missense Mutation	TAT,TGT	Y15C	XP_016865235.1
XM_017009747.1	52	Intron			XP_016865236.1

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