Product Details

SNP ID

rs200432228

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:35105241 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAATCAGGGCAAAGGTGAATAAC[A/G]TGGATTATGAGGGGCCTCGGTCACA

Phenotype

MIM: 614730 MIM: 608292

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM214B PubMed Links

Gene Details

Gene

FAM214B

Gene Name

family with sequence similarity 214 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317991.1	2057	Missense Mutation	CGT,TGT	R533C	NP_001304920.1
NM_025182.3	2057	Missense Mutation	CGT,TGT	R533C	NP_079458.2
XM_005251588.1	2057	Missense Mutation	CGT,TGT	R533C	XP_005251645.1
XM_005251590.1	2057	Intron			XP_005251647.1
XM_005251591.1	2057	Missense Mutation	CGT,TGT	R533C	XP_005251648.1
XM_005251592.1	2057	Missense Mutation	CGT,TGT	R336C	XP_005251649.1
XM_005251593.1	2057	Missense Mutation	CGT,TGT	R336C	XP_005251650.1
XM_005251594.1	2057	Missense Mutation	CGT,TGT	R336C	XP_005251651.1
XM_005251596.4	2057	Missense Mutation	CGT,TGT	R336C	XP_005251653.1
XM_005251597.4	2057	Missense Mutation	CGT,TGT	R336C	XP_005251654.1
XM_005251598.4	2057	Missense Mutation	CGT,TGT	R336C	XP_005251655.1
XM_011518037.1	2057	Intron			XP_011516339.1
XM_011518039.1	2057	Missense Mutation	CGT,TGT	R510C	XP_011516341.1
XM_011518040.1	2057	Missense Mutation	CGT,TGT	R495C	XP_011516342.1
XM_011518043.1	2057	Missense Mutation	CGT,TGT	R228C	XP_011516345.1
XM_011518044.1	2057	Intron			XP_011516346.1
XM_017015169.1	2057	UTR 3			XP_016870658.1
XM_017015170.1	2057	Missense Mutation	CGT,TGT	R228C	XP_016870659.1

Gene

PIGO

Gene Name

phosphatidylinositol glycan anchor biosynthesis class O

There are no transcripts associated with this gene.

Gene

STOML2

Gene Name

stomatin like 2

There are no transcripts associated with this gene.

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