Product Details

SNP ID

rs149237884

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:133356683 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGGATGGACTCGTACTCCGTCCAC[A/G]CTGGGGTCTGCAGGCCCCTCTCCTT

Phenotype

MIM: 602292 MIM: 609776

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ECHS1 PubMed Links

Gene Details

Gene

ECHS1

Gene Name

enoyl-CoA hydratase, short chain 1

There are no transcripts associated with this gene.

Gene

FUOM

Gene Name

fucose mutarotase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098483.2	305	Missense Mutation	GCG,GTG	A94V	NP_001091953.1
NM_001301827.1	305	Missense Mutation	GCG,GTG	A71V	NP_001288756.1
NM_001301828.1	305	Missense Mutation	GCG,GTG	A49V	NP_001288757.1
NM_198472.2	305	Missense Mutation	GCG,GTG	A94V	NP_940874.2
XM_011539670.2	305	Missense Mutation	GCG,GTG	A94V	XP_011537972.1
XM_011539671.2	305	Missense Mutation	GCG,GTG	A94V	XP_011537973.1
XM_011539672.2	305	Missense Mutation	GCG,GTG	A94V	XP_011537974.1
XM_011539673.2	305	Missense Mutation	GCG,GTG	A94V	XP_011537975.1
XM_011539674.2	305	Missense Mutation	GCG,GTG	A94V	XP_011537976.1
XM_011539675.2	305	Missense Mutation	GCG,GTG	A94V	XP_011537977.1
XM_017016094.1	305	Missense Mutation	GCG,GTG	A49V	XP_016871583.1

Gene

PRAP1

Gene Name

proline rich acidic protein 1

There are no transcripts associated with this gene.

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