Product Details

SNP ID

rs12977172

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50512147 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCTGGCCGCACCCAGGAGGCTC[C/T]GCCAGAAGGCCGTGACGGTGGCGGA

Phenotype

MIM: 614545 MIM: 615324

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ASPDH PubMed Links

Additional Information

For this assay, SNP(s) [rs79706750] 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

ASPDH

Gene Name

aspartate dehydrogenase domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024656.2	859	Missense Mutation	CAG,CGG	Q161R	NP_001019827.2
NM_001114598.1	859	Missense Mutation	CAG,CGG	Q266R	NP_001108070.1

Gene

EMC10

Gene Name

ER membrane protein complex subunit 10

There are no transcripts associated with this gene.

Gene

JOSD2

Gene Name

Josephin domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270639.1	859	Intron			NP_001257568.1
NM_001270640.1	859	Intron			NP_001257569.1
NM_001270641.1	859	Intron			NP_001257570.1
NM_001270686.1	859	Intron			NP_001257615.1
NM_138334.3	859	Intron			NP_612207.1
XM_011526434.2	859	Intron			XP_011524736.1

Gene

LRRC4B

Gene Name

leucine rich repeat containing 4B

There are no transcripts associated with this gene.

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