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SNP ID

rs141942249

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:107203605 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTGCCTTCTCTACTTCTCACTG[A/G]TTGAACATAAGCTTCCAGGGCTCCC

Phenotype

MIM: 606821 MIM: 616714

Polymorphism

A/G, Transition 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	3019	Intron			NP_001154992.1
NM_006348.3	3019	Missense Mutation			NP_006339.3
NM_181733.2	3019	Missense Mutation			NP_859422.2

Gene

HBP1

Gene Name

HMG-box transcription factor 1

There are no transcripts associated with this gene.

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