Product Details

SNP ID

rs34100214

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:107203550 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGACATAGCCTTTTGAAGCAGC[G/T]GAACCATTATGGGATAAACTGGTGC

Phenotype

MIM: 606821 MIM: 616714

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

COG5 PubMed Links

Gene Details

Gene

COG5

Gene Name

component of oligomeric golgi complex 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161520.1	3074	Intron			NP_001154992.1
NM_006348.3	3074	Missense Mutation	CAG,CCG	Q850P	NP_006339.3
NM_181733.2	3074	Missense Mutation	CAG,CCG	Q829P	NP_859422.2

Gene

HBP1

Gene Name

HMG-box transcription factor 1

There are no transcripts associated with this gene.

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