Product Details

SNP ID

rs199875725

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151077110 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCTGCCTCCTTTACCTCTGGGCA[C/G]GGTCTCGAGTAGTGGCGCTAGAGGC

Phenotype

MIM: 616813 MIM: 606965 MIM: 109280 MIM: 614792

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AGAP3 PubMed Links

Gene Details

Gene

AGAP3

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3

There are no transcripts associated with this gene.

Gene

FASTK

Gene Name

Fas activated serine/threonine kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258461.1	1090	Missense Mutation	CCT,CGT	P446R	NP_001245390.1
NM_006712.4	1090	Missense Mutation	CCT,CGT	P473R	NP_006703.1
NM_033015.3	1090	Missense Mutation	CCT,CGT	P332R	NP_148936.2
XM_005249932.1	1090	Missense Mutation	CCT,CGT	P439R	XP_005249989.1
XM_005249933.3	1090	Missense Mutation	CCT,CGT	P439R	XP_005249990.1
XM_011515761.2	1090	Missense Mutation	CCT,CGT	P473R	XP_011514063.1
XM_011515762.2	1090	Intron			XP_011514064.1
XM_011515763.1	1090	Missense Mutation	CCT,CGT	P305R	XP_011514065.1
XM_017011704.1	1090	Missense Mutation	CCT,CGT	P412R	XP_016867193.1
XM_017011705.1	1090	Missense Mutation	CCT,CGT	P332R	XP_016867194.1
XM_017011706.1	1090	Missense Mutation	CCT,CGT	P234R	XP_016867195.1

Gene

SLC4A2

Gene Name

solute carrier family 4 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199692.1	1090	Intron			NP_001186621.1
NM_001199693.1	1090	Intron			NP_001186622.1
NM_001199694.1	1090	Intron			NP_001186623.1
NM_003040.3	1090	Intron			NP_003031.3
XM_006716094.3	1090	Intron			XP_006716157.1

Gene

TMUB1

Gene Name

transmembrane and ubiquitin like domain containing 1

There are no transcripts associated with this gene.

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