Product Details

SNP ID

rs3809740

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8288959 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGTCTGCCTCGCCTCACTCCAGCGA[C/T]CTCCGACCGGTCCCGGACAATCAAG

Phenotype

MIM: 607954 MIM: 610818

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RANGRF PubMed Links

Gene Details

Gene

RANGRF

Gene Name

RAN guanine nucleotide release factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001177801.1	219	Silent Mutation	GAC,GAT	D27D	NP_001171272.1
NM_001177802.1	219	Silent Mutation	GAC,GAT	D27D	NP_001171273.1
NM_016492.4	219	Silent Mutation	GAC,GAT	D27D	NP_057576.2
XM_005256618.4	219	Silent Mutation	GAC,GAT	D27D	XP_005256675.1

Gene

SLC25A35

Gene Name

solute carrier family 25 member 35

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320870.1	219	Intron			NP_001307799.1
NM_001320871.1	219	Intron			NP_001307800.1
NM_001320872.1	219	UTR 3			NP_001307801.1
NM_001320877.1	219	Intron			NP_001307806.1
NM_201520.2	219	UTR 3			NP_958928.1
XM_005256641.2	219	Intron			XP_005256698.1
XM_011523846.1	219	Intron			XP_011522148.1
XM_017024633.1	219	Intron			XP_016880122.1
XM_017024634.1	219	Intron			XP_016880123.1

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