Product Details

SNP ID

rs140312984

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8289580 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACTGATCTCTTGCTTACCTTCAA[C/T]CAGCCCCCGTAAGGAGGAAGGAACG

Phenotype

MIM: 607954 MIM: 610818

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

RANGRF PubMed Links

Additional Information

For this assay, SNP(s) [rs869773] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	567	Silent Mutation	AAC,AAT	N143N	NP_001171272.1
NM_001177802.1	567	UTR 3			NP_001171273.1
NM_016492.4	567	Silent Mutation	AAC,AAT	N143N	NP_057576.2
XM_005256618.4	567	Intron			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	567	Intron			NP_001307799.1
NM_001320871.1	567	UTR 3			NP_001307800.1
NM_001320872.1	567	UTR 3			NP_001307801.1
NM_001320877.1	567	Intron			NP_001307806.1
NM_201520.2	567	UTR 3			NP_958928.1
XM_005256641.2	567	Intron			XP_005256698.1
XM_011523846.1	567	UTR 3			XP_011522148.1
XM_017024633.1	567	Intron			XP_016880122.1
XM_017024634.1	567	Intron			XP_016880123.1

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