Product Details

SNP ID

rs140253885

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.21:37065617 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTAAAGTTCTTTGGCTGCAAGAA[A/C]GAACATTTGGTTTACTTCACTAATA

Phenotype

MIM: 605938 MIM: 602259

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

LOC105372795 PubMed Links

Additional Information

For this assay, SNP(s) [rs16994704] are located under a primer 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

LOC105372795

Gene Name

uncharacterized LOC105372795

There are no transcripts associated with this gene.

Gene

PIGP

Gene Name

phosphatidylinositol glycan anchor biosynthesis class P

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320480.1	551	Missense Mutation	GTT,TTT	V124F	NP_001307409.1
NM_016430.3	551	Missense Mutation	GTT,TTT	V98F	NP_057514.2
NM_153681.2	551	Missense Mutation	GTT,TTT	V148F	NP_710148.1
NM_153682.2	551	Missense Mutation	GTT,TTT	V124F	NP_710149.1
XM_005260990.4	551	Intron			XP_005261047.1
XM_011529596.2	551	Missense Mutation	GTT,TTT	V124F	XP_011527898.1
XM_017028364.1	551	Missense Mutation	GTT,TTT	V124F	XP_016883853.1
XM_017028365.1	551	Missense Mutation	GTT,TTT	V98F	XP_016883854.1

Gene

TTC3

Gene Name

tetratricopeptide repeat domain 3

There are no transcripts associated with this gene.

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