Product Details

SNP ID

rs150394866

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:109615314 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAGCACGCGTGGATGCTCTCTGC[C/G]TCCGATGGCAAGTGGGACAGCCTGG

Phenotype

MIM: 601181 MIM: 611737

Polymorphism

C/G, 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	981	Intron			NP_006258.3
XM_005264002.2	981	Intron			XP_005264059.1
XM_005264003.2	981	Intron			XP_005264060.1
XM_005264004.2	981	Intron			XP_005264061.1
XM_005264005.4	981	Intron			XP_005264062.1
XM_005264007.2	981	Intron			XP_005264064.1
XM_011511575.2	981	Intron			XP_011509877.1
XM_011511576.2	981	Intron			XP_011509878.1
XM_011511578.2	981	Intron			XP_011509880.1
XM_017004623.1	981	Intron			XP_016860112.1
XM_017004624.1	981	Intron			XP_016860113.1
XM_017004625.1	981	Intron			XP_016860114.1

Gene

SEPT10

Gene Name

septin 10

There are no transcripts associated with this gene.

Gene

SOWAHC

Gene Name

sosondowah ankyrin repeat domain family member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_023016.3	981	Silent Mutation	GCC,GCG	A275A	NP_075392.2

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