Product Details

SNP ID

rs148137345

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:33304144 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACACTTACCAGCCCAGCCCAGTGC[C/T]TTGAAGAGCCCAAGCAGAAGAAAGG

Phenotype

MIM: 602306 MIM: 601962

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RGL2 PubMed Links

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	1497	Silent Mutation	AAA,AAG	K428K	NP_003181.3
NM_172208.2	1497	Silent Mutation	AAA,AAG	K428K	NP_757345.2
NM_172209.2	1497	Silent Mutation	AAA,AAG	K341K	NP_757346.2
XM_011514828.2	1497	Intron			XP_011513130.1
XM_017011227.1	1497	Silent Mutation	AAA,AAG	K428K	XP_016866716.1

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