Product Details

SNP ID

rs202023423

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:150791571 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGAGGTCTGCTCCCTAGAGGGC[A/G]AAGGGGGCACTGAATTCTCCCCCAG

Phenotype

MIM: 610334 MIM: 610385

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

LOC105375566 PubMed Links

Additional Information

For this assay, SNP(s) [rs2302479] 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

LOC105375566

Gene Name

uncharacterized LOC105375566

There are no transcripts associated with this gene.

Gene

TMEM176A

Gene Name

transmembrane protein 176A

There are no transcripts associated with this gene.

Gene

TMEM176B

Gene Name

transmembrane protein 176B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101311.1	790	Missense Mutation	TCG,TTG	S258L	NP_001094781.1
NM_001101312.1	790	Missense Mutation	TCG,TTG	S258L	NP_001094782.1
NM_001101314.1	790	Missense Mutation	TCG,TTG	S221L	NP_001094784.1
NM_014020.3	790	Missense Mutation	TCG,TTG	S258L	NP_054739.3
XM_006715933.3	790	Missense Mutation	TCG,TTG	S221L	XP_006715996.2

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