Product Details

SNP ID

rs145292930

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:110101894 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATGAACTGGTACAGTCTCACATA[C/T]TGGGGCAGCTCTAGCTACTGGTGGA

Phenotype

MIM: 605035

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

WASF1 PubMed Links

Gene Details

Gene

WASF1

Gene Name

WAS protein family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024934.1	1410	Missense Mutation	ATA,GTA	I406V	NP_001020105.1
NM_001024935.1	1410	Missense Mutation	ATA,GTA	I406V	NP_001020106.1
NM_001024936.1	1410	Missense Mutation	ATA,GTA	I406V	NP_001020107.1
NM_003931.2	1410	Missense Mutation	ATA,GTA	I406V	NP_003922.1
XM_005267203.3	1410	Missense Mutation	ATA,GTA	I406V	XP_005267260.1
XM_005267205.2	1410	Missense Mutation	ATA,GTA	I406V	XP_005267262.1
XM_005267206.2	1410	Missense Mutation	ATA,GTA	I406V	XP_005267263.1
XM_005267207.2	1410	Missense Mutation	ATA,GTA	I406V	XP_005267264.1
XM_011536233.1	1410	Missense Mutation	ATA,GTA	I406V	XP_011534535.1
XM_011536234.1	1410	Missense Mutation	ATA,GTA	I406V	XP_011534536.1
XM_011536235.1	1410	Missense Mutation	ATA,GTA	I405V	XP_011534537.1
XM_017011437.1	1410	Missense Mutation	ATA,GTA	I406V	XP_016866926.1
XM_017011438.1	1410	Missense Mutation	ATA,GTA	I406V	XP_016866927.1
XM_017011439.1	1410	Missense Mutation	ATA,GTA	I405V	XP_016866928.1
XM_017011440.1	1410	Missense Mutation	ATA,GTA	I405V	XP_016866929.1
XM_017011441.1	1410	Missense Mutation	ATA,GTA	I405V	XP_016866930.1
XM_017011442.1	1410	Missense Mutation	ATA,GTA	I405V	XP_016866931.1
XM_017011443.1	1410	Missense Mutation	ATA,GTA	I405V	XP_016866932.1
XM_017011444.1	1410	Missense Mutation	ATA,GTA	I405V	XP_016866933.1

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