Product Details

SNP ID

rs199573774

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:62045973 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATGGACATGACAATCACATAGTG[C/G]CTGATGCTGCAAAAGGAGAAAAAGA

Phenotype

MIM: 606097

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PIGN PubMed Links

Gene Details

Gene

PIGN

Gene Name

phosphatidylinositol glycan anchor biosynthesis class N

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012327.5	2283	Missense Mutation	AGC,AGG	S893R	NP_036459.1
NM_176787.4	2283	Missense Mutation	AGC,AGG	S893R	NP_789744.1
XM_011525889.1	2283	Missense Mutation	AGC,AGG	S932R	XP_011524191.1
XM_011525890.1	2283	Missense Mutation	AGC,AGG	S932R	XP_011524192.1
XM_011525891.1	2283	Missense Mutation	AGC,AGG	S932R	XP_011524193.1
XM_011525892.1	2283	Missense Mutation	AGC,AGG	S932R	XP_011524194.1
XM_011525893.1	2283	Missense Mutation	AGC,AGG	S932R	XP_011524195.1
XM_011525894.1	2283	Missense Mutation	AGC,AGG	S932R	XP_011524196.1
XM_011525895.1	2283	Missense Mutation	AGC,AGG	S932R	XP_011524197.1
XM_011525896.1	2283	Missense Mutation	AGC,AGG	S913R	XP_011524198.1
XM_011525898.1	2283	Intron			XP_011524200.1
XM_017025685.1	2283	Missense Mutation	AGC,AGG	S798R	XP_016881174.1
XM_017025686.1	2283	Missense Mutation	AGC,AGG	S759R	XP_016881175.1

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