Product Details

SNP ID

rs2544809

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:177458498 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCAATGGTGTCAGCTGCATCGTGGA[C/T]CTCCGTGGCGTCAGCTGTGGCAGGC

Phenotype

MIM: 126660

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DBN1 PubMed Links

Gene Details

Gene

DBN1

Gene Name

drebrin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004395.3	1624	Missense Mutation	ATC,GTC	I446V	NP_004386.2
NM_080881.2	1624	Missense Mutation	ATC,GTC	I448V	NP_543157.1
XM_005265827.3	1624	Missense Mutation	ATC,GTC	I492V	XP_005265884.1
XM_006714826.2	1624	Missense Mutation	ATC,GTC	I429V	XP_006714889.1
XM_011534446.2	1624	Missense Mutation	ATC,GTC	I494V	XP_011532748.1
XM_011534447.2	1624	Missense Mutation	ATC,GTC	I481V	XP_011532749.1
XM_017009139.1	1624	Missense Mutation	ATC,GTC	I494V	XP_016864628.1
XM_017009140.1	1624	Missense Mutation	ATC,GTC	I448V	XP_016864629.1

Gene

PRR7

Gene Name

proline rich 7 (synaptic)

There are no transcripts associated with this gene.

View Full Product Details