Product Details

SNP ID

rs34430513

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:4940947 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTTCCCGCTTCCTGTGGTTGTGG[C/T]CGCTGTGCTGTGGGGAGCGGCCCCG

Phenotype

MIM: 131370 MIM: 606672 MIM: 176610 MIM: 610431 MIM: 604165

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ENO3 PubMed Links

Gene Details

Gene

ENO3

Gene Name

enolase 3

There are no transcripts associated with this gene.

Gene

GP1BA

Gene Name

glycoprotein Ib platelet alpha subunit

There are no transcripts associated with this gene.

Gene

PFN1

Gene Name

profilin 1

There are no transcripts associated with this gene.

Gene

RNF167

Gene Name

ring finger protein 167

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320356.1	298	Missense Mutation	GCC,GTC	A13V	NP_001307285.1
NM_001320357.1	298	Missense Mutation	GCC,GTC	A13V	NP_001307286.1
NM_001320358.1	298	Missense Mutation	GCC,GTC	A13V	NP_001307287.1
NM_001320359.1	298	Missense Mutation	GCC,GTC	A13V	NP_001307288.1
NM_001320360.1	298	Missense Mutation	GCC,GTC	A13V	NP_001307289.1
NM_001320361.1	298	Missense Mutation	GCC,GTC	A13V	NP_001307290.1
NM_001320362.1	298	UTR 5			NP_001307291.1
NM_001320363.1	298	UTR 5			NP_001307292.1
NM_001320364.1	298	Intron			NP_001307293.1
NM_001320365.1	298	UTR 5			NP_001307294.1
NM_015528.2	298	Missense Mutation	GCC,GTC	A13V	NP_056343.1
XM_017024427.1	298	Missense Mutation	GCC,GTC	A13V	XP_016879916.1
XM_017024428.1	298	Intron			XP_016879917.1

Gene

SLC25A11

Gene Name

solute carrier family 25 member 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165417.1	298	Intron			NP_001158889.1
NM_001165418.1	298	Intron			NP_001158890.1
NM_003562.4	298	Intron			NP_003553.2

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