Product Details

SNP ID

rs201905471

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:85547249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACTGTAATCAACTTCTTCAAGGA[A/G]TCGAGGTTCATCTTCATCCAAGACA

Phenotype

MIM: 606830

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AGTPBP1 PubMed Links

Gene Details

Gene

AGTPBP1

Gene Name

ATP/GTP binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286715.1	3642	Missense Mutation	CTC,TTC	L1233F	NP_001273644.1
NM_001286717.1	3642	Missense Mutation	CTC,TTC	L1193F	NP_001273646.1
NM_015239.2	3642	Missense Mutation	CTC,TTC	L1141F	NP_056054.2
XM_005251847.3	3642	Missense Mutation	CTC,TTC	L1181F	XP_005251904.1
XM_005251848.2	3642	Missense Mutation	CTC,TTC	L1181F	XP_005251905.1
XM_005251849.3	3642	Missense Mutation	CTC,TTC	L1063F	XP_005251906.1
XM_011518418.2	3642	Intron			XP_011516720.1
XM_011518420.2	3642	Missense Mutation	CTC,TTC	L826F	XP_011516722.1
XM_011518421.2	3642	Intron			XP_011516723.1
XM_017014544.1	3642	Missense Mutation	CTC,TTC	L1181F	XP_016870033.1
XM_017014545.1	3642	Intron			XP_016870034.1
XM_017014546.1	3642	Missense Mutation	CTC,TTC	L1023F	XP_016870035.1
XM_017014547.1	3642	Intron			XP_016870036.1
XM_017014548.1	3642	Missense Mutation	CTC,TTC	L916F	XP_016870037.1
XM_017014549.1	3642	Intron			XP_016870038.1
XM_017014550.1	3642	Intron			XP_016870039.1

Gene

LOC101927603

Gene Name

uncharacterized LOC101927603

There are no transcripts associated with this gene.

View Full Product Details