Product Details

SNP ID

rs146905811

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:109546167 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAATTATTTCTTCTTCCAAAAGT[A/C]TTCTCTTTTCTTCAAGCTTCATTCT

Phenotype

MIM: 601181 MIM: 611737

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RANBP2 PubMed Links

Gene Details

Gene

RANBP2

Gene Name

RAN binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006267.4	1611	Intron			NP_006258.3
XM_005264002.2	1611	Intron			XP_005264059.1
XM_005264003.2	1611	Intron			XP_005264060.1
XM_005264004.2	1611	Intron			XP_005264061.1
XM_005264005.4	1611	Intron			XP_005264062.1
XM_005264007.2	1611	Intron			XP_005264064.1
XM_011511575.2	1611	Intron			XP_011509877.1
XM_011511576.2	1611	Intron			XP_011509878.1
XM_011511578.2	1611	Intron			XP_011509880.1
XM_017004623.1	1611	Intron			XP_016860112.1
XM_017004624.1	1611	Intron			XP_016860113.1
XM_017004625.1	1611	Intron			XP_016860114.1

Gene

SEPT10

Gene Name

septin 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321496.1	1611	Missense Mutation	AGA,ATA	R278I	NP_001308425.1
NM_001321498.1	1611	Missense Mutation	AGA,ATA	R411I	NP_001308427.1
NM_001321499.1	1611	Missense Mutation	AGA,ATA	R244I	NP_001308428.1
NM_001321500.1	1611	Missense Mutation	AGA,ATA	R388I	NP_001308429.1
NM_001321501.1	1611	Missense Mutation	AGA,ATA	R369I	NP_001308430.1
NM_001321502.1	1611	UTR 3			NP_001308431.1
NM_001321503.1	1611	UTR 3			NP_001308432.1
NM_001321504.1	1611	Missense Mutation	AGA,ATA	R218I	NP_001308433.1
NM_001321505.1	1611	Missense Mutation	AGA,ATA	R218I	NP_001308434.1
NM_001321506.1	1611	Missense Mutation	AGA,ATA	R221I	NP_001308435.1
NM_001321507.1	1611	Missense Mutation	AGA,ATA	R278I	NP_001308436.1
NM_001321508.1	1611	UTR 3			NP_001308437.1
NM_001321509.1	1611	Missense Mutation	AGA,ATA	R369I	NP_001308438.1
NM_001321510.1	1611	Missense Mutation	AGA,ATA	R244I	NP_001308439.1
NM_001321511.1	1611	Missense Mutation	AGA,ATA	R221I	NP_001308440.1
NM_001321512.1	1611	Missense Mutation	AGA,ATA	R411I	NP_001308441.1
NM_001321513.1	1611	Missense Mutation	AGA,ATA	R402I	NP_001308442.1
NM_001321514.1	1611	Missense Mutation	AGA,ATA	R396I	NP_001308443.1
NM_001321515.1	1611	Missense Mutation	AGA,ATA	R379I	NP_001308444.1
NM_144710.4	1611	Missense Mutation	AGA,ATA	R411I	NP_653311.1
NM_178584.3	1611	Missense Mutation	AGA,ATA	R388I	NP_848699.1
XM_006712317.1	1611	Missense Mutation	AGA,ATA	R411I	XP_006712380.1
XM_011510698.2	1611	Missense Mutation	AGA,ATA	R396I	XP_011509000.1
XM_011510699.2	1611	Missense Mutation	AGA,ATA	R388I	XP_011509001.1
XM_011510700.2	1611	Missense Mutation	AGA,ATA	R369I	XP_011509002.1
XM_011510701.2	1611	Missense Mutation	AGA,ATA	R278I	XP_011509003.1
XM_011510702.2	1611	Missense Mutation	AGA,ATA	R244I	XP_011509004.1
XM_011510703.2	1611	Intron			XP_011509005.1
XM_011510704.2	1611	UTR 3			XP_011509006.1

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