Product Details

SNP ID

rs142693692

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:46704690 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGTCCCACTGATCAAAATCTTTA[C/T]GAAGTCCTATAAAATATAAAGTGTT

Phenotype

MIM: 601690 MIM: 611200

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PLA2G7 PubMed Links

Gene Details

Gene

PLA2G7

Gene Name

phospholipase A2 group VII

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168357.1	1374	Missense Mutation	CAT,CGT	H399R	NP_001161829.1
NM_005084.3	1374	Missense Mutation	CAT,CGT	H399R	NP_005075.3
XM_005249408.4	1374	Missense Mutation	CAT,CGT	H399R	XP_005249465.1

Gene

TDRD6

Gene Name

tudor domain containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010870.2	1374	Intron			NP_001010870.1
NM_001168359.1	1374	Intron			NP_001161831.1

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