Product Details

SNP ID

rs2304681

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27092384 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGCAACGCGTCCAACTCCTGCACC[A/G]TTCTCTCCCTGCTCGGAGCCCCCTG

Phenotype

MIM: 606137 MIM: 130660 MIM: 614058

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CGREF1 PubMed Links

Gene Details

Gene

CGREF1

Gene Name

cell growth regulator with EF-hand domain 1

There are no transcripts associated with this gene.

Gene

EMILIN1

Gene Name

elastin microfibril interfacer 1

There are no transcripts associated with this gene.

Gene

KHK

Gene Name

ketohexokinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000221.2	667	Missense Mutation	ATT,GTT	I49V	NP_000212.1
NM_006488.2	667	Missense Mutation	ATT,GTT	I49V	NP_006479.1
XM_005264294.3	667	Missense Mutation	ATT,GTT	I49V	XP_005264351.1
XM_005264296.3	667	Missense Mutation	ATT,GTT	I49V	XP_005264353.1
XM_005264298.3	667	Intron			XP_005264355.1
XM_006712008.3	667	Missense Mutation	ATT,GTT	I49V	XP_006712071.1
XM_006712009.3	667	Missense Mutation	ATT,GTT	I49V	XP_006712072.1
XM_006712010.3	667	Missense Mutation	ATT,GTT	I49V	XP_006712073.1
XM_006712011.3	667	Missense Mutation	ATT,GTT	I49V	XP_006712074.1
XM_006712012.3	667	Missense Mutation	ATT,GTT	I49V	XP_006712075.1
XM_006712013.3	667	Missense Mutation	ATT,GTT	I49V	XP_006712076.1
XM_006712014.3	667	Intron			XP_006712077.1
XM_017004060.1	667	Missense Mutation	ATT,GTT	I49V	XP_016859549.1
XM_017004061.1	667	Missense Mutation	ATT,GTT	I49V	XP_016859550.1

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