Product Details

SNP ID

rs11547372

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40800667 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTTGGAGCCTGAGCCTGGCCGGG[C/T]CAGGATGGGAGTGGAGAGTTACCTG

Phenotype

MIM: 606424 MIM: 612945

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYP2T1P PubMed Links

Gene Details

Gene

CYP2T1P

Gene Name

cytochrome P450 family 2 subfamily T member 1, pseudogene

There are no transcripts associated with this gene.

Gene

EGLN2

Gene Name

egl-9 family hypoxia inducible factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_053046.3	449	Missense Mutation	GCC,GTC	A32V	NP_444274.1
NM_080732.3	449	Missense Mutation	GCC,GTC	A32V	NP_542770.2

Gene

MIA-RAB4B

Gene Name

MIA-RAB4B readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

RAB4B

Gene Name

RAB4B, member RAS oncogene family

There are no transcripts associated with this gene.

Gene

RAB4B-EGLN2

Gene Name

RAB4B-EGLN2 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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