Product Details

SNP ID

rs199880599

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:21102110 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCTGGAGCTTCGCAGAGCACCCC[A/G]CCTTTGGAAGGTGAGAGGGAAGAAA

Phenotype

MIM: 605036

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

TMEM253 PubMed Links

Additional Information

For this assay, SNP(s) [rs745696] 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

TMEM253

Gene Name

transmembrane protein 253

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146683.1	556	Missense Mutation	CAC,CGC	H89R	NP_001140155.1
XM_006720233.3	556	Missense Mutation	CAC,CGC	H89R	XP_006720296.1
XM_011537078.2	556	Missense Mutation	CAC,CGC	H89R	XP_011535380.1
XM_011537079.1	556	Missense Mutation	CAC,CGC	H89R	XP_011535381.1
XM_011537081.2	556	Missense Mutation	CAC,CGC	H52R	XP_011535383.1
XM_011537082.2	556	Missense Mutation	CAC,CGC	H52R	XP_011535384.1
XM_011537083.2	556	Missense Mutation	CAC,CGC	H89R	XP_011535385.1
XM_011537084.2	556	Missense Mutation	CAC,CGC	H89R	XP_011535386.1
XM_011537085.2	556	Missense Mutation	CAC,CGC	H52R	XP_011535387.1

Gene

ZNF219

Gene Name

zinc finger protein 219

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101672.1	556	Intron			NP_001095142.1
NM_001102454.1	556	Intron			NP_001095924.1
NM_016423.2	556	Intron			NP_057507.2
XM_005267739.1	556	Intron			XP_005267796.1
XM_006720163.2	556	Intron			XP_006720226.1
XM_006720164.3	556	Intron			XP_006720227.1
XM_011536825.1	556	Intron			XP_011535127.1
XM_017021354.1	556	Intron			XP_016876843.1
XM_017021355.1	556	Intron			XP_016876844.1

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