Product Details

SNP ID

rs8013767

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:67653164 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTGCCTTCTCTAAAGAACATCAGCT[A/G]TGATTAAATGTCCTTTCAGTGGAGA

Phenotype

MIM: 107830 MIM: 603930 MIM: 603207

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ARG2 PubMed Links

Gene Details

Gene

ARG2

Gene Name

arginase 2

There are no transcripts associated with this gene.

Gene

GPHN

Gene Name

gephyrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024218.1		Intron			NP_001019389.1
NM_020806.4		Intron			NP_065857.1
XM_005267254.3		Intron			XP_005267311.1
XM_011536340.2		Intron			XP_011534642.1
XM_011536342.2		Intron			XP_011534644.1
XM_011536343.2		Intron			XP_011534645.1
XM_011536344.2		Intron			XP_011534646.1
XM_011536345.2		Intron			XP_011534647.1
XM_011536346.2		Intron			XP_011534648.1
XM_011536347.2		Intron			XP_011534649.1
XM_017020913.1		Intron			XP_016876402.1
XM_017020914.1		Intron			XP_016876403.1
XM_017020915.1		Intron			XP_016876404.1
XM_017020916.1		Intron			XP_016876405.1
XM_017020917.1		Intron			XP_016876406.1
XM_017020918.1		Intron			XP_016876407.1
XM_017020919.1		Intron			XP_016876408.1
XM_017020920.1		Intron			XP_016876409.1
XM_017020921.1		Intron			XP_016876410.1
XM_017020922.1		Intron			XP_016876411.1
XM_017020923.1		Intron			XP_016876412.1
XM_017020924.1		Intron			XP_016876413.1
XM_017020925.1		Intron			XP_016876414.1
XM_017020926.1		Intron			XP_016876415.1

Gene

VTI1B

Gene Name

vesicle transport through interaction with t-SNAREs 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006370.2		Intron			NP_006361.1

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