Product Details

SNP ID

rs34116679

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:47964274 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CATTCCGCTGCTGCTCGCCCCTCCT[C/T]CTGCAGGCGAAAGCAAGAAGATGAC

Phenotype

MIM: 120140

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COL2A1 PubMed Links

Gene Details

Gene

COL2A1

Gene Name

collagen type II alpha 1 chain

There are no transcripts associated with this gene.

Gene

TMEM106C

Gene Name

transmembrane protein 106C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143841.1	224	Missense Mutation	TCC,TTC	S13F	NP_001137313.1
NM_001143842.1	224	Missense Mutation	TCC,TTC	S13F	NP_001137314.1
NM_001143843.1	224	Missense Mutation	TCC,TTC	S13F	NP_001137315.1
NM_024056.3	224	Missense Mutation	TCC,TTC	S13F	NP_076961.1

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