Product Details

SNP ID

rs139675546

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:170862046 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTCCTGGGAAGATGGCGCTGCAC[C/T]TCCAGGTCAGTGTGCTCTGCGCCGC

Phenotype

MIM: 606141

Polymorphism

C/T, 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	21	Missense Mutation	CTC,TTC	L5F	NP_075048.1
XM_011534627.1	21	Missense Mutation	CTC,TTC	L5F	XP_011532929.1
XM_011534631.2	21	Intron			XP_011532933.1
XM_011534636.2	21	Missense Mutation	CTC,TTC	L5F	XP_011532938.1
XM_011534637.2	21	Missense Mutation	CTC,TTC	L5F	XP_011532939.1
XM_017009736.1	21	Missense Mutation	CTC,TTC	L5F	XP_016865225.1
XM_017009737.1	21	Intron			XP_016865226.1
XM_017009738.1	21	Missense Mutation	CTC,TTC	L5F	XP_016865227.1
XM_017009739.1	21	Missense Mutation	CTC,TTC	L5F	XP_016865228.1
XM_017009740.1	21	Missense Mutation	CTC,TTC	L5F	XP_016865229.1
XM_017009741.1	21	Missense Mutation	CTC,TTC	L5F	XP_016865230.1
XM_017009742.1	21	Missense Mutation	CTC,TTC	L5F	XP_016865231.1
XM_017009743.1	21	Intron			XP_016865232.1
XM_017009744.1	21	Missense Mutation	CTC,TTC	L5F	XP_016865233.1
XM_017009745.1	21	Intron			XP_016865234.1
XM_017009746.1	21	Missense Mutation	CTC,TTC	L5F	XP_016865235.1
XM_017009747.1	21	Intron			XP_016865236.1

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