Product Details

SNP ID

rs108621

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:75013934 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGGCATGATCGCGACTGGCCAGCA[C/T]ACTGGCCGGTTCTCTCTGTTAGCAG

Phenotype

MIM: 606454 MIM: 604395

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

EIF2B2 PubMed Links

Additional Information

For this assay, SNP(s) [rs77514025] 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

EIF2B2

Gene Name

eukaryotic translation initiation factor 2B subunit beta

There are no transcripts associated with this gene.

Gene

MLH3

Gene Name

mutL homolog 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040108.1	7549	UTR 3			NP_001035197.1
NM_014381.2	7549	UTR 3			NP_055196.2
XM_005267532.4	7549	UTR 3			XP_005267589.1
XM_005267533.4	7549	UTR 3			XP_005267590.1
XM_005267534.2	7549	Intron			XP_005267591.1
XM_006720116.3	7549	Intron			XP_006720179.1
XM_011536646.2	7549	UTR 3			XP_011534948.1
XM_011536648.2	7549	Intron			XP_011534950.1
XM_017021219.1	7549	UTR 3			XP_016876708.1

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