Product Details

SNP ID

rs146966502

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:75727260 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTGTCCGTGTGGATAAGGACTGC[A/G]CCTACTGCACAGACGAGGTGAGGAC

Phenotype

MIM: 147557

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ITGB4 PubMed Links

Gene Details

Gene

ITGB4

Gene Name

integrin subunit beta 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000213.4	356	Missense Mutation	ACC,GCC	T49A	NP_000204.3
NM_001005619.1	356	Missense Mutation	ACC,GCC	T49A	NP_001005619.1
NM_001005731.2	356	Missense Mutation	ACC,GCC	T49A	NP_001005731.1
NM_001321123.1	356	Missense Mutation	ACC,GCC	T49A	NP_001308052.1
XM_005257309.2	356	Missense Mutation	ACC,GCC	T49A	XP_005257366.1
XM_005257311.4	356	Missense Mutation	ACC,GCC	T49A	XP_005257368.1
XM_006721866.3	356	Missense Mutation	ACC,GCC	T84A	XP_006721929.1
XM_006721867.3	356	Missense Mutation	ACC,GCC	T84A	XP_006721930.1
XM_006721868.3	356	Missense Mutation	ACC,GCC	T84A	XP_006721931.1
XM_006721870.3	356	Missense Mutation	ACC,GCC	T84A	XP_006721933.1
XM_011524751.2	356	Missense Mutation	ACC,GCC	T84A	XP_011523053.1
XM_011524752.2	356	Intron			XP_011523054.1

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