Product Details

SNP ID

rs148527481

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144510673 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCCTGTCAGACTGCCTTGGTCTT[C/T]CACCTGGACACCCTGGGGGCCAGCA

Phenotype

MIM: 138200 MIM: 609172 MIM: 603780

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GPT PubMed Links

Gene Details

Gene

GPT

Gene Name

glutamic--pyruvic transaminase

There are no transcripts associated with this gene.

Gene

LOC101928953

Gene Name

uncharacterized LOC101928953

There are no transcripts associated with this gene.

Gene

LRRC14

Gene Name

leucine rich repeat containing 14

There are no transcripts associated with this gene.

Gene

MFSD3

Gene Name

major facilitator superfamily domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138431.2	2151	Silent Mutation	TTC,TTT	F302F	NP_612440.1
XM_011516806.2	2151	Missense Mutation	CCA,TCA	P300S	XP_011515108.1
XM_017013005.1	2151	Silent Mutation	TTC,TTT	F302F	XP_016868494.1

Gene

PPP1R16A

Gene Name

protein phosphatase 1 regulatory subunit 16A

There are no transcripts associated with this gene.

Gene

RECQL4

Gene Name

RecQ like helicase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004260.3	2151	Intron			NP_004251.3
XM_011517384.2	2151	Intron			XP_011515686.1
XM_017013991.1	2151	Intron			XP_016869480.1
XM_017013992.1	2151	Intron			XP_016869481.1
XM_017013993.1	2151	Intron			XP_016869482.1
XM_017013994.1	2151	Intron			XP_016869483.1
XM_017013995.1	2151	Intron			XP_016869484.1
XM_017013996.1	2151	Intron			XP_016869485.1
XM_017013997.1	2151	Intron			XP_016869486.1
XM_017013998.1	2151	Intron			XP_016869487.1
XM_017013999.1	2151	Intron			XP_016869488.1
XM_017014000.1	2151	Intron			XP_016869489.1
XM_017014001.1	2151	Intron			XP_016869490.1

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