Product Details

SNP ID

rs138516982

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:33304194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGACAGGAAAAGGCCTACGCTGT[C/T]CTCAAGGGAGGGCCCTGAAAGACCT

Phenotype

MIM: 602306 MIM: 601962

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

RGL2 PubMed Links

Additional Information

For this assay, SNP(s) [rs34132052] are located under a probe 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

RGL2

Gene Name

ral guanine nucleotide dissociation stimulator like 2

There are no transcripts associated with this gene.

Gene

TAPBP

Gene Name

TAP binding protein (tapasin)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003190.4	1447	Missense Mutation	AAC,GAC	N412D	NP_003181.3
NM_172208.2	1447	Missense Mutation	AAC,GAC	N412D	NP_757345.2
NM_172209.2	1447	Missense Mutation	AAC,GAC	N325D	NP_757346.2
XM_011514828.2	1447	Intron			XP_011513130.1
XM_017011227.1	1447	Missense Mutation	AAC,GAC	N412D	XP_016866716.1

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