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SNP ID: rs139224576
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:1348477 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTGGAGAAGTGCATGGAGGCGGAC[C/T]CCTGAGTCCATCAGCTGCCAGCCCC
Phenotype: MIM: 604009 MIM: 607838
Polymorphism: C/T, 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	4170	Missense Mutation	CCC,TCC	P1116S	NP_001186025.1
NM_001199097.1	4170	Missense Mutation	CCC,TCC	P1152S	NP_001186026.1
NM_001199098.1	4170	Missense Mutation	CCC,TCC	P1129S	NP_001186027.1
NM_001199099.1	4170	Missense Mutation	CCC,TCC	P1124S	NP_001186028.1
NM_001286464.1	4170	Missense Mutation	CCC,TCC	P1169S	NP_001273393.1
NM_003933.4	4170	Missense Mutation	CCC,TCC	P1187S	NP_003924.2
XM_011522728.1	4170	Missense Mutation	CCC,TCC	P1204S	XP_011521030.1
XM_011522729.1	4170	Missense Mutation	CCC,TCC	P1173S	XP_011521031.1
XM_011522730.2	4170	UTR 3			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	4170	Intron			NP_001001410.1

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