Product Details

SNP ID

rs149911255

Assay Type

Functionally tested

NCBI dbSNP Submissions

21

Location

Chr.1:220058849 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCAAATGAAACTTTCCTTTAAG[A/G]AACAAGTGCATTTTTAATAGATTCT

Phenotype

MIM: 604053

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BPNT1 PubMed Links

Gene Details

Gene

BPNT1

Gene Name

3'(2'), 5'-bisphosphate nucleotidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286149.1	1098	Missense Mutation	CCT,TCT	P253S	NP_001273078.1
NM_001286150.1	1098	Missense Mutation	CCT,TCT	P272S	NP_001273079.1
NM_001286151.1	1098	Missense Mutation	CCT,TCT	P253S	NP_001273080.1
NM_006085.5	1098	Missense Mutation	CCT,TCT	P308S	NP_006076.4
XM_005272998.2	1098	Missense Mutation	CCT,TCT	P323S	XP_005273055.1
XM_005272999.4	1098	Missense Mutation	CCT,TCT	P323S	XP_005273056.1
XM_005273000.4	1098	Missense Mutation	CCT,TCT	P308S	XP_005273057.1
XM_005273004.2	1098	Missense Mutation	CCT,TCT	P242S	XP_005273061.1
XM_005273005.4	1098	Missense Mutation	CCT,TCT	P242S	XP_005273062.1
XM_006711114.3	1098	Missense Mutation	CCT,TCT	P287S	XP_006711177.1
XM_011509063.2	1098	Missense Mutation	CCT,TCT	P268S	XP_011507365.1
XM_011509064.2	1098	Missense Mutation	CCT,TCT	P232S	XP_011507366.1
XM_011509065.2	1098	Intron			XP_011507367.1
XM_017000043.1	1098	Missense Mutation	CCT,TCT	P272S	XP_016855532.1
XM_017000044.1	1098	Missense Mutation	CCT,TCT	P217S	XP_016855533.1
XM_017000045.1	1098	Intron			XP_016855534.1
XM_017000046.1	1098	Missense Mutation	CCT,TCT	P187S	XP_016855535.1

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