Product Details

SNP ID

rs200662235

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:32357331 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGCCGGGGTCTCAGAGTGGCTGG[G/T]GCTGCGGGACGGCTGCATGCACTGC

Phenotype

MIM: 605638

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BIRC6 PubMed Links

Gene Details

Gene

BIRC6

Gene Name

baculoviral IAP repeat containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016252.3	425	Missense Mutation	GGG,GTG	G57V	NP_057336.3
XM_005264449.4	425	Missense Mutation	GGG,GTG	G57V	XP_005264506.2
XM_005264450.4	425	Missense Mutation	GGG,GTG	G57V	XP_005264507.2
XM_005264451.4	425	Missense Mutation	GGG,GTG	G57V	XP_005264508.2
XM_005264452.4	425	Missense Mutation	GGG,GTG	G57V	XP_005264509.2
XM_005264453.4	425	Missense Mutation	GGG,GTG	G57V	XP_005264510.2
XM_005264454.4	425	Missense Mutation	GGG,GTG	G57V	XP_005264511.2
XM_005264455.4	425	Missense Mutation	GGG,GTG	G57V	XP_005264512.2
XM_006712054.3	425	Missense Mutation	GGG,GTG	G57V	XP_006712117.1
XM_006712055.3	425	Missense Mutation	GGG,GTG	G57V	XP_006712118.1
XM_006712056.3	425	Missense Mutation	GGG,GTG	G57V	XP_006712119.1
XM_011533003.2	425	Intron			XP_011531305.1
XM_011533005.2	425	Missense Mutation	GGG,GTG	G57V	XP_011531307.1
XM_017004556.1	425	Missense Mutation	GGG,GTG	G57V	XP_016860045.1
XM_017004557.1	425	Missense Mutation	GGG,GTG	G57V	XP_016860046.1
XM_017004558.1	425	Missense Mutation	GGG,GTG	G57V	XP_016860047.1
XM_017004559.1	425	Missense Mutation	GGG,GTG	G57V	XP_016860048.1
XM_017004560.1	425	Missense Mutation	GGG,GTG	G57V	XP_016860049.1

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