Product Details

SNP ID

rs145986101

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50467645 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCTTACTCCTGCGTGAAGGGCA[C/T]AGCAGAAGCAGAGAGGAAGCGCAGG

Phenotype

MIM: 614545 MIM: 160793

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EMC10 PubMed Links

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	691	Missense Mutation	ATG,GTG	M242V	NP_001295358.1
NM_138411.2	691	Missense Mutation	ATG,GTG	M226V	NP_612420.1
XM_011526405.2	691	Missense Mutation	ATG,GTG	M242V	XP_011524707.2
XM_011526406.2	691	Missense Mutation	ATG,GTG	M226V	XP_011524708.2

Gene

MYBPC2

Gene Name

myosin binding protein C, fast type

There are no transcripts associated with this gene.

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