Product Details

SNP ID

rs2278999

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50466719 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGAACCGAAGAGGGAGGCAGCCGTA[T/C]TGGACAAACTCCTGCCAGGCAGCTG

Phenotype

MIM: 614545 MIM: 160793

Polymorphism

T/C, Transition Substitution

Allele Nomenclature

Literature Links

EMC10 PubMed Links

Additional Information

For this assay, SNP(s) [rs2308271] are located under a probe and SNP(s) [rs6509476] 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

EMC10

Gene Name

ER membrane protein complex subunit 10

There are no transcripts associated with this gene.

Gene

FAM71E1

Gene Name

family with sequence similarity 71 member E1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308429.1	944	Intron			NP_001295358.1
NM_138411.2	944	Intron			NP_612420.1
XM_011526405.2	944	Missense Mutation	AAT,AGT	N326S	XP_011524707.2
XM_011526406.2	944	Missense Mutation	AAT,AGT	N310S	XP_011524708.2

Gene

MYBPC2

Gene Name

myosin binding protein C, fast type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004533.3	944	Intron			NP_004524.3

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