Product Details

SNP ID

rs146940228

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7858633 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCAAGCACATAGATCCGCTGACC[A/G]GCTGCCTGAGGTACTGCACCCCGCG

Phenotype

MIM: 611577

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CYB5D1 PubMed Links

Additional Information

For this assay, SNP(s) [rs3744252] 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

CYB5D1

Gene Name

cytochrome b5 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005256440.3	433	Missense Mutation	AGC,GGC	S89G	XP_005256497.1
XM_011523638.2	433	Missense Mutation	AGC,GGC	S89G	XP_011521940.1

Gene

KDM6B

Gene Name

lysine demethylase 6B

There are no transcripts associated with this gene.

Gene

NAA38

Gene Name

N(alpha)-acetyltransferase 38, NatC auxiliary subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011524037.2	433	Intron			XP_011522339.1
XM_017025225.1	433	Intron			XP_016880714.1
XM_017025226.1	433	Intron			XP_016880715.1

Gene

TMEM88

Gene Name

transmembrane protein 88

There are no transcripts associated with this gene.

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