Product Details

SNP ID

rs34235314

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1348287 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCTGTCACCCTGCACCTGTGCC[A/G]GCCCAGAGCCCAGGGTGAGTGAGCA

Phenotype

MIM: 604009 MIM: 607838

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BAIAP3 PubMed Links

Gene Details

Gene

BAIAP3

Gene Name

BAI1 associated protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199096.1	3446	Missense Mutation	CAG,CGG	Q1078R	NP_001186025.1
NM_001199097.1	3446	Missense Mutation	CAG,CGG	Q1114R	NP_001186026.1
NM_001199098.1	3446	Missense Mutation	CAG,CGG	Q1091R	NP_001186027.1
NM_001199099.1	3446	Missense Mutation	CAG,CGG	Q1086R	NP_001186028.1
NM_001286464.1	3446	Missense Mutation	CAG,CGG	Q1131R	NP_001273393.1
NM_003933.4	3446	Missense Mutation	CAG,CGG	Q1149R	NP_003924.2
XM_011522728.1	3446	Missense Mutation	CAG,CGG	Q1166R	XP_011521030.1
XM_011522729.1	3446	Intron			XP_011521031.1
XM_011522730.2	3446	Intron			XP_011521032.1

Gene

GNPTG

Gene Name

N-acetylglucosamine-1-phosphate transferase gamma subunit

There are no transcripts associated with this gene.

Gene

TSR3

Gene Name

TSR3, acp transferase ribosome maturation factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001410.2	3446	Intron			NP_001001410.1

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