Product Details

SNP ID

rs200100279

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:33202607 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTCAGAGGAAGAAGAAAAGGAA[A/C]CAAGAGGGGTTCAGAAGAGGCGAGG

Phenotype

MIM: 120290 MIM: 601417 MIM: 611500 MIM: 602045 MIM: 180246 MIM: 601416

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

COL11A2 PubMed Links

Gene Details

Gene

COL11A2

Gene Name

collagen type XI alpha 2

There are no transcripts associated with this gene.

Gene

HSD17B8

Gene Name

hydroxysteroid 17-beta dehydrogenase 8

There are no transcripts associated with this gene.

Gene

MIR219A1

Gene Name

microRNA 219a-1

There are no transcripts associated with this gene.

Gene

RING1

Gene Name

ring finger protein 1

There are no transcripts associated with this gene.

Gene

RXRB

Gene Name

retinoid X receptor beta

There are no transcripts associated with this gene.

Gene

SLC39A7

Gene Name

solute carrier family 39 member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077516.1	1267	Missense Mutation	ACA,CCA	T283P	NP_001070984.1
NM_001288777.1	1267	Missense Mutation	ACA,CCA	T158P	NP_001275706.1
NM_006979.2	1267	Missense Mutation	ACA,CCA	T283P	NP_008910.2

View Full Product Details