Product Details

SNP ID

rs17057454

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:72128223 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCAGACCTATTACTATCATATTTAT[A/T]AAGCTACCTCCATATCTTAGTGAAA

Phenotype

MIM: 139260

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

GDA PubMed Links

Additional Information

For this assay, SNP(s) [rs111620435] 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

GDA

Gene Name

guanine deaminase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242505.2		Intron			NP_001229434.1
NM_001242506.2		Intron			NP_001229435.1
NM_001242507.2		Intron			NP_001229436.1
NM_004293.4		Intron			NP_004284.1
XM_005252317.1		Intron			XP_005252374.1
XM_011519213.1		Intron			XP_011517515.1
XM_011519214.1		Intron			XP_011517516.1
XM_011519215.1		Intron			XP_011517517.1
XM_011519216.1		Intron			XP_011517518.1
XM_011519217.1		Intron			XP_011517519.1
XM_011519218.2		Intron			XP_011517520.1
XM_011519219.1		Intron			XP_011517521.1
XM_011519220.1		Intron			XP_011517522.1
XM_011519221.1		Intron			XP_011517523.1
XM_011519222.1		Intron			XP_011517524.1
XM_011519223.2		Intron			XP_011517525.1
XM_017015333.1		Intron			XP_016870822.1
XM_017015334.1		Intron			XP_016870823.1
XM_017015335.1		Intron			XP_016870824.1
XM_017015336.1		Intron			XP_016870825.1
XM_017015337.1		Intron			XP_016870826.1
XM_017015338.1		Intron			XP_016870827.1
XM_017015339.1		Intron			XP_016870828.1
XM_017015340.1		Intron			XP_016870829.1

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