Product Details

SNP ID

rs146183145

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55685137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGCCAGGATGGGGTGTGCATCC[A/G]GGCCCTCCCGCCGGGGGCTGCCCCA

Phenotype

MIM: 600536

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ITGA7 PubMed Links

Gene Details

Gene

ITGA7

Gene Name

integrin subunit alpha 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144996.1	3226	Missense Mutation	CCG,CTG	P1116L	NP_001138468.1
NM_001144997.1	3226	Missense Mutation	CCG,CTG	P1019L	NP_001138469.1
NM_002206.2	3226	Missense Mutation	CCG,CTG	P1112L	NP_002197.2
XM_005268839.1	3226	Missense Mutation	CCG,CTG	P1156L	XP_005268896.1
XM_005268840.1	3226	Missense Mutation	CCG,CTG	P1150L	XP_005268897.1
XM_005268841.1	3226	UTR 3			XP_005268898.1
XM_005268842.1	3226	Missense Mutation	CCG,CTG	P1106L	XP_005268899.1
XM_005268844.1	3226	Missense Mutation	CCG,CTG	P1043L	XP_005268901.1
XM_005268846.1	3226	Missense Mutation	CCG,CTG	P999L	XP_005268903.1
XM_005268848.1	3226	Missense Mutation	CCG,CTG	P998L	XP_005268905.1
XM_005268849.1	3226	Missense Mutation	CCG,CTG	P998L	XP_005268906.1
XM_005268850.1	3226	Missense Mutation	CCG,CTG	P954L	XP_005268907.1
XM_017019265.1	3226	Missense Mutation	CCG,CTG	P1026L	XP_016874754.1

Gene

METTL7B

Gene Name

methyltransferase like 7B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152637.2	3226	Intron			NP_689850.2

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