Product Details

SNP ID

rs3177780

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31879762 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCCAACACAAAAATCGCAGTTT[A/T]TTACCAAACCCAACATTTATTGAGA

Phenotype

MIM: 604599 MIM: 606107

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

EHMT2 PubMed Links

Additional Information

For this assay, SNP(s) [rs112211188] 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

EHMT2

Gene Name

euchromatic histone lysine methyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289413.1	4049	UTR 3			NP_001276342.1
NM_001318833.1	4049	UTR 3			NP_001305762.1
NM_006709.4	4049	UTR 3			NP_006700.3
NM_025256.6	4049	UTR 3			NP_079532.5
XM_005248824.3	4049	UTR 3			XP_005248881.1
XM_006714974.1	4049	UTR 3			XP_006715037.1
XM_006714975.1	4049	UTR 3			XP_006715038.1
XM_006714976.1	4049	UTR 3			XP_006715039.1
XM_017010202.1	4049	UTR 3			XP_016865691.1

Gene

SLC44A4

Gene Name

solute carrier family 44 member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178044.1	4049	Intron			NP_001171515.1
NM_001178045.1	4049	Intron			NP_001171516.1
NM_025257.2	4049	Intron			NP_079533.2

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