Product Details

SNP ID

rs200282023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38213705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACTCGATGCACTGCCAGCGGTAG[G/T]TCCGCACGGCTGCCGTCATGTTCAC

Phenotype

MIM: 601670 MIM: 616655

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DPF1 PubMed Links

Gene Details

Gene

DPF1

Gene Name

double PHD fingers 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135155.2	1007	Missense Mutation	AAC,ACC	N344T	NP_001128627.1
NM_001135156.2	1007	Missense Mutation	AAC,ACC	N262T	NP_001128628.1
NM_001289978.1	1007	Missense Mutation	AAC,ACC	N344T	NP_001276907.1
NM_004647.3	1007	Missense Mutation	AAC,ACC	N300T	NP_004638.2
XM_005259289.2	1007	Missense Mutation	AAC,ACC	N327T	XP_005259346.1
XM_005259290.3	1007	Missense Mutation	AAC,ACC	N318T	XP_005259347.1
XM_005259292.4	1007	Missense Mutation	AAC,ACC	N299T	XP_005259349.1
XM_006723407.2	1007	Missense Mutation	AAC,ACC	N318T	XP_006723470.1
XM_006723408.3	1007	Missense Mutation	AAC,ACC	N316T	XP_006723471.1
XM_006723409.2	1007	Missense Mutation	AAC,ACC	N162T	XP_006723472.1
XM_006723410.2	1007	Missense Mutation	AAC,ACC	N162T	XP_006723473.1
XM_011527356.1	1007	Missense Mutation	AAC,ACC	N327T	XP_011525658.1
XM_011527357.2	1007	Missense Mutation	AAC,ACC	N299T	XP_011525659.1
XM_011527358.2	1007	Missense Mutation	AAC,ACC	N262T	XP_011525660.1

Gene

SIPA1L3

Gene Name

signal induced proliferation associated 1 like 3

There are no transcripts associated with this gene.

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