Product Details

SNP ID

rs148246051

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50476229 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTCCCCGTCCGACGGGAGCGGAC[C/G]GAGGAGCAGAGGGAGAAAGCGAGGG

Phenotype

MIM: 614545 MIM: 160793

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EMC10 PubMed Links

Gene Details

Gene

EMC10

Gene Name

ER membrane protein complex subunit 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175063.5	175	Intron			NP_778233.4
NM_206538.3	175	Intron			NP_996261.1
XM_006723163.3	175	Intron			XP_006723226.1
XM_011526818.2	175	Intron			XP_011525120.1

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	175	Missense Mutation	CGT,GGT	R54G	NP_001295358.1
NM_138411.2	175	Missense Mutation	CGT,GGT	R54G	NP_612420.1
XM_011526405.2	175	Missense Mutation	CGT,GGT	R54G	XP_011524707.2
XM_011526406.2	175	Missense Mutation	CGT,GGT	R54G	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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