Product Details

SNP ID

rs200969045

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27053539 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCGCACACTGCCCACCCGGCCAC[A/G]CTGGGAACGCATTCGAGACCGGCCC

Phenotype

MIM: 615900

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AGBL5 PubMed Links

Gene Details

Gene

AGBL5

Gene Name

ATP/GTP binding protein like 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001035507.2	531	Missense Mutation	CAC,CGC	H118R	NP_001030584.1
NM_021831.5	531	Missense Mutation	CAC,CGC	H118R	NP_068603.4
XM_005264477.2	531	Missense Mutation	CAC,CGC	H118R	XP_005264534.1
XM_011533011.2	531	Missense Mutation	CAC,CGC	H118R	XP_011531313.1
XM_011533012.2	531	Missense Mutation	CAC,CGC	H118R	XP_011531314.1
XM_011533013.2	531	Missense Mutation	CAC,CGC	H118R	XP_011531315.1

Gene

AGBL5-AS1

Gene Name

AGBL5 antisense RNA 1

There are no transcripts associated with this gene.

Gene

TRA-AGC8-1

Gene Name

transfer RNA-Ala (AGC) 8-1

There are no transcripts associated with this gene.

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