Product Details

SNP ID

rs59270301

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:5769160 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCCGGGTAGACAACTTTGTAATA[A/G]CCCTGAAGAGACTCCACAAAGATTT

Phenotype

MIM: 611156 MIM: 610354

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ERMP1 PubMed Links

Gene Details

Gene

ERMP1

Gene Name

endoplasmic reticulum metallopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024896.2	4076	Intron			NP_079172.2
XM_005251587.1	4076	Intron			XP_005251644.1
XM_017015139.1	4076	Intron			XP_016870628.1

Gene

RIC1

Gene Name

RIC1 homolog, RAB6A GEF complex partner 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135920.2	4076	Missense Mutation	ACC,GCC	T1110A	NP_001129392.2
NM_001206557.1	4076	Missense Mutation	ACC,GCC	T1073A	NP_001193486.1
NM_020829.3	4076	Missense Mutation	ACC,GCC	T1110A	NP_065880.2
XM_005251523.3	4076	Missense Mutation	ACC,GCC	T1109A	XP_005251580.1
XM_011517967.2	4076	Missense Mutation	ACC,GCC	T799A	XP_011516269.1
XM_011517968.2	4076	Missense Mutation	ACC,GCC	T573A	XP_011516270.1
XM_017014934.1	4076	Missense Mutation	ACC,GCC	T995A	XP_016870423.1
XM_017014935.1	4076	Missense Mutation	ACC,GCC	T995A	XP_016870424.1
XM_017014936.1	4076	Missense Mutation	ACC,GCC	T995A	XP_016870425.1

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