Product Details

SNP ID

rs55676749

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:26405588 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGAAAATGGCAAGTTTCCTGGCC[C/T]TCCTTCTGCTCAACTTTCGTGTCTG

Phenotype

MIM: 613593 MIM: 613594

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BTN3A1 PubMed Links

Gene Details

Gene

BTN3A1

Gene Name

butyrophilin subfamily 3 member A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145008.1	380	Missense Mutation	CTC,TTC	L9F	NP_001138480.1
NM_001145009.1	380	Missense Mutation	CTC,TTC	L9F	NP_001138481.1
NM_007048.5	380	Missense Mutation	CTC,TTC	L9F	NP_008979.3
NM_194441.2	380	Missense Mutation	CTC,TTC	L9F	NP_919423.1
XM_005248833.2	380	Missense Mutation	CTC,TTC	L9F	XP_005248890.1
XM_005248834.3	380	Missense Mutation	CTC,TTC	L9F	XP_005248891.1
XM_006714983.2	380	Missense Mutation	CTC,TTC	L9F	XP_006715046.1

Gene

BTN3A2

Gene Name

butyrophilin subfamily 3 member A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001197246.2	380	Intron			NP_001184175.1
NM_001197247.2	380	Intron			NP_001184176.1
NM_001197248.2	380	Intron			NP_001184177.1
NM_001197249.2	380	Intron			NP_001184178.1
NM_007047.4	380	Intron			NP_008978.2
XM_005248827.3	380	Intron			XP_005248884.1
XM_005248831.3	380	Intron			XP_005248888.1
XM_005248832.3	380	Intron			XP_005248889.1
XM_006714979.3	380	Intron			XP_006715042.1
XM_006714980.3	380	Intron			XP_006715043.1
XM_006714981.3	380	Intron			XP_006715044.1
XM_006714982.3	380	Intron			XP_006715045.1
XM_011514267.2	380	Intron			XP_011512569.1
XM_011514268.2	380	Intron			XP_011512570.1
XM_011514269.2	380	Intron			XP_011512571.1
XM_011514270.2	380	Intron			XP_011512572.1
XM_011514271.2	380	Intron			XP_011512573.1
XM_017010211.1	380	Intron			XP_016865700.1
XM_017010212.1	380	Intron			XP_016865701.1
XM_017010213.1	380	Intron			XP_016865702.1
XM_017010214.1	380	Intron			XP_016865703.1
XM_017010215.1	380	Intron			XP_016865704.1
XM_017010216.1	380	Intron			XP_016865705.1
XM_017010217.1	380	Intron			XP_016865706.1

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