Product Details

SNP ID

rs309248

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:68715237 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTAAGAATCCTTTGCGCTCTCGG[C/T]GCCCCCCTCCACGCCCAGGAGCGTG

Phenotype

MIM: 616102

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CCDC102B PubMed Links

Additional Information

For this assay, SNP(s) [rs199817898] are located under a probe and SNP(s) [rs74917552] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CCDC102B

Gene Name

coiled-coil domain containing 102B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001093729.1	16	Intron			NP_001087198.1
NM_024781.2	16	Intron			NP_079057.2
XM_011526174.2	16	Intron			XP_011524476.1
XM_011526175.2	16	Intron			XP_011524477.1
XM_017025973.1	16	UTR 5			XP_016881462.1
XM_017025974.1	16	Intron			XP_016881463.1
XM_017025975.1	16	UTR 5			XP_016881464.1
XM_017025976.1	16	UTR 5			XP_016881465.1
XM_017025977.1	16	Intron			XP_016881466.1
XM_017025978.1	16	Intron			XP_016881467.1
XM_017025979.1	16	UTR 5			XP_016881468.1
XM_017025980.1	16	UTR 5			XP_016881469.1

Gene

TMX3

Gene Name

thioredoxin related transmembrane protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019022.3	16	Intron			NP_061895.3
XM_005266714.2	16	Intron			XP_005266771.1
XM_011526033.2	16	Intron			XP_011524335.1
XM_011526034.2	16	Intron			XP_011524336.1
XM_011526035.2	16	Intron			XP_011524337.1

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